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Tytuł:
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Autorzy:
Angius, Andrea
Baker, Janice A.
Bedoukian, Emma
Bhambhani, Vikas
Bodamer, Olaf
O’Brien, Alan
Clayton-Smith, Jill
Crisponi, Laura
Cueto González, Anna María
the DDD study
Devriendt, Koenraad
Garrido, Elena Dominguez
Ehmke, Nadja
van Eerde, Albertien
van den Elzen, Annette P.M.
Faivre, Laurence
Fisher, Laura
Flores-Daboub, Josue A.
Foster, Alison
Friedman, Jennifer
Gabau, Elisabeth
Galazzi, Elena
García-Miñaúr, Sixto
Garavelli, Livia
Gardeitchik, Thatjana
Gerkes, Erica H.
van Gils, Julien
Giltay, Jacques C.
Garcia, Aixa Gonzalez
Heimdal, Ketil Riddervold
Horn, Denise
Houge, Gunnar
Hufnagel, Sophia B.
Ilencikova, Denisa
Julia, Sophie
Kant, Sarina G.
Kinning, Esther
Klee, Eric W.
Kois, Chelsea
Kovačević, Maja
Lachmeijer, A.M.A. (Guus)
Lanpher, Brendan
Lebrun, Marine
Leon, Eyby
Lichty, Angie Ward
Lin, Ruth
Llano-Rivas, Isabel
Lynch, Sally Ann
Maas, Saskia M.
Maitz, Silvia B.
McKee, Shane
Melis, Daniela
Merati, Elisabetta
Merla, Giuseppe
Newbury-Ecob, Ruth
Nizon, Mathilde
Park, Soo-Mi
Patterson, Jennifer
Petit, Florence
Peeters, Hilde
Persani, Luca
Persico, Ivana
Pes, Valentina
Pollazzon, Marzia
Potjer, Thomas
Potocki, Lorraine
Pottinger, Carrie
Prasad, Chitra
Prijoles, Eloise J.
Ragge, Nicola K.
Rake, Jan Peter
van Ravenswaaij-Arts, Conny M.A.
Rea, Gillian
Ruivenkamp, Claudia
Rutz, Audrey
Saitta, Sulagna C.
Russo, Rossana Sanchez
Santen, Gijs W.E.
Schaefer, Elise
Shashi, Vandana
Schultz-Rogers, Laura
Sluga, Andrea
Sotgiu, Stefano
Steichen-Gersdorf, Elisabeth
Sullivan, Jennifer A.
Sun, Yu
Suri, Mohnish
Tartaglia, Marco
Tedder, Matt
Terhal, Paulien
Tully, Ian
Verbeek, Nienke
Wenzel, Maren
White, Susan M.
Xiao, Bing
Haghshenas, Sadegheh
Bout, Hidde J.
Schijns, Josephine M.
Levy, Michael A.
Kerkhof, Jennifer
Bhai, Pratibha
McConkey, Haley
Jenkins, Zandra A.
Williams, Ella M.
Halliday, Benjamin J.
Huisman, Sylvia A.
Lauffer, Peter
de Waard, Vivian
Witteveen, Laura
Banka, Siddharth
Brady, Angela F.
Hurst, Anna C.E.
Kaiser, Frank J.
Lacombe, Didier
Martinez-Monseny, Antonio F.
Fergelot, Patricia
Monteiro, Fabíola P.
Parenti, Ilaria
Santos-Simarro, Fernando
Simpson, Brittany N.
Alders, Mariëlle
Robertson, Stephen P.
Sadikovic, Bekim
Menke, Leonie A.
Pokaż więcej
Źródło:
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Czasopismo naukowe
Szczegóły
Tytuł:
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Autorzy:
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, Audrey Stephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips III, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Paul, Maimuna S.
Michener, Sydney L.
Pan, Hongling
Chan, Hiuling
Pfliger, Jessica M.
Lerma, Vanesa C.
Tran, Alyssa
Longley, Megan A.
Weisz-Hubshman, Monika
Bekheirnia, Mir Reza
Bekheirnia, Nasim
Massingham, Lauren
Zech, Michael
Wagner, Matias
Engels, Hartmut
Cremer, Kirsten
Mangold, Elisabeth
Peters, Sophia
Trautmann, Jessica
Perne, Claudia
Mester, Jessica L.
Guillen Sacoto, Maria J.
Person, Richard
McDonnell, Pamela P.
Cohen, Stacey R.
Lusk, Laina
Cohen, Ana S.A.
Le Pichon, Jean-Baptiste
Pastinen, Tomi
Zhou, Dihong
Engleman, Kendra
Racine, Caroline
Faivre, Laurence
Moutton, Sébastien
Denommé-Pichon, Anne-Sophie
Koh, Hyun Yong
Poduri, Annapurna
Bolton, Jeffrey
Knopp, Cordula
Julia Suh, Dong Sun
Maier, Andrea
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Schaefer, Gerald Bradley
Ramakumaran, Vijayalakshmi
Vasudevan, Pradeep
Banos-Pinero, Benito
Pagnamenta, Alistair T.
Prasad, Chitra
Osmond, Matthew
Schuhmann, Sarah
Vasileiou, Georgia
Russ-Hall, Sophie
Scheffer, Ingrid E.
Carvill, Gemma L.
Pokaż więcej
Źródło:
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Czasopismo naukowe
Szczegóły
Tytuł:
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Autorzy:
Boer, Elke de
Cohen, Enzo
Cuesta, Isabel
Danis, Daniel
Denommé-Pichon, Anne-Sophie
Gao, Fei
Gilissen, Christian
Horvath, Rita
Johari, Mridul
Johanson, Lennart
Li, Shuang
Matalonga, Leslie
Morsy, Heba
Nelson, Isabelle
Paramonov, Ida
Paske, Iris B.A.W. te
Robinson, Peter
Savarese, Marco
Steyaert, Wouter
Töpf, Ana
Trimouille, Aurélien
van der Velde, Joeri K.
Vandrovcova, Jana
Vitobello, Antonio
Zurek, Birte
Abbot, Kristin M.
Banka, Siddharth
Benetti, Elisa
de Boer, Elke
Casari, Giorgio
Ciolfi, Andrea
Clayton-Smith, Jill
Dallapiccola, Bruno
Ellwanger, Kornelia
Faivre, Laurence
Graessner, Holm
Haack, Tobias B.
Hammarsjö, Anna
Havlovicova, Marketa
Hoischen, Alexander
Hugon, Anne
Jackson, Adam
Kerstjens, Mieke
Kleefstra, Tjitske
Lindstrand, Anna
Martín, Estrella López
Macek, Milan, Jr.
Maystadt, Isabelle
Morleo, Manuela
Nigro, Vicenzo
Nordgren, Ann
Pettersson, Maria
Pinelli, Michele
Pizzi, Simone
Posada, Manuel
Radio, Francesca C.
Renieri, Alessandra
Rooryck, Caroline
Ryba, Lukas
Santen, Gijs W.E.
Schwarz, Martin
Tartaglia, Marco
Thauvin, Christel
Torella, Annalaura
Verloes, Alain
Vissers, Lisenka
Votypka, Pavel
Vyshka, Klea
Zguro, Kristina
Yaldiz, Burcu
Laurie, Steve
de Reuver, Rick
Kwint, Michael
Pfundt, Rolph
Willemsen, Michèl A.A.P.
Vries, Bert B.A. de
Vitobello, A.
Vissers, Lisenka E.L.M.
Pokaż więcej
Źródło:
In European Journal of Medical Genetics January 2022 65(1)
Czasopismo naukowe
Szczegóły
Tytuł:
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction
Autorzy:
Cambon-Viala, Marie
Gerard, Hilla
Nguyen, Karine
Richard, Pascale
Ader, Flavie
Pruny, Jean-François
Donal, Erwan
Eicher, Jean-Christophe
Huttin, Olivier
Selton-Suty, Christine
Raud-Raynier, Pascale
Jondeau, Guillaume
Mansencal, Nicolas
Sawka, Caroline
Casalta, Anne-Claire
Michel, Nicolas
Donghi, Valeria
Martel, Hélène
Faivre, Laurence
Charron, Philippe
Habib, Gilbert
Pokaż więcej
Źródło:
In Journal of Cardiac Failure June 2021 27(6):677-681
Czasopismo naukowe
Szczegóły
Tytuł:
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Autorzy:
Schöpflin, RobertAff1, Aff2, Aff3
Melo, Uirá SoutoAff1, Aff2
Moeinzadeh, Hossein
Heller, David
Laupert, Verena
Hertzberg, JakobAff1, Aff2, Aff3
Holtgrewe, ManuelAff4, Aff5
Alavi, Nico
Klever, Marius-KonstantinAff1, Aff2
Jungnitsch, JuliusAff1, Aff2
Comak, Emel
Türkmen, SevalAff2, Aff6
Horn, Denise
Duffourd, YannisAff7, Aff8
Faivre, LaurenceAff7, Aff9
Callier, PatrickAff7, Aff8
Sanlaville, Damien
Zuffardi, Orsetta
Tenconi, Romano
Kurtas, Nehir Edibe
Giglio, Sabrina
Prager, Bettina
Latos-Bielenska, Anna
Vogel, Ida
Bugge, Merete
Tommerup, Niels
Spielmann, MalteAff1, Aff19, Aff20
Vitobello, AntonioAff7, Aff8
Kalscheuer, Vera M.
Vingron, MartinAff3, IDs41467022340537_cor30
Mundlos, StefanAff1, Aff2, IDs41467022340537_cor31
Pokaż więcej
Źródło:
Nature Communications. 13(1)
Czasopismo naukowe
Szczegóły
Tytuł:
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
Autorzy:
Hascoet, Sebastien
Edouard, Thomas
Plaisancie, Julie
Arnoult, Florence
Milleron, Olivier
Stheneur, Chantal
Chevallier, Bertrand
Zordan, Cécile
Odent, Sylvie
Bal, Laurence
Faivre, Laurence
Leheup, Bruno
Dupuis-Girod, Sophie
Ruidavets, Jean-Bernard
Acar, Philippe
Ferrieres, Jean
Jondeau, Guillaume
Dulac, Yves
Pokaż więcej
Alternatywny tytuł:
Incidence des événements cardio-vasculaires dans une étude prospective de patients ayant un syndrome de Marfan diagnostiqué dans l’enfance (French)
Źródło:
In Archives of Cardiovascular Diseases January 2020 113(1):40-49
Czasopismo naukowe
Szczegóły
Tytuł:
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
Autorzy:
Addor, Marie-Claude
Andrieux, Joris
Arveiler, Benoît
Baujatm, Geneviève
Sloan-Bénan, Frédérique
Belfiore, Marco
Bonneau, Dominique
Bouquillon, Sonia
Boute, Odile
Brusco, Alfredo
Busa, Tiffany
Caberg, Jean-Hubert
Campion, Dominique
Colombert, Vanessa
Cordier, Marie-Pierre
David, Albert
Debray, François-Guillaume
Delrue, Marie-Ange
Doco-Fenzy, Martine
Dunkhase-Heinl, Ulrike
Edery, Patrick
Fagerberg, Christina
Faivre, Laurence
Forzano, Francesca
Genevieve, David
Gérard, Marion
Giachino, Daniela
Guichet, Agnès
Guillin, Olivier
Héron, Delphine
Isidor, Bertrand
Jacquette, Aurélia
Jaillard, Sylvie
Journel, Hubert
Keren, Boris
Lacombe, Didier
Lebon, Sébastien
Le Caignec, Cédric
Lemaître, Marie-Pierre
Lespinasse, James
Mathieu-Dramart, Michèle
Mercier, Sandra
Mignot, Cyril
Missirian, Chantal
Petit, Florence
Pilekær Sørensen, Kristina
Pinson, Lucile
Plessis, Ghislaine
Prieur, Fabienne
Rooryck-Thambo, Caroline
Rossi, Massimiliano
Sanlaville, Damien
Schlott Kristiansen, Britta
Schluth-Bolard, Caroline
Till, Marianne
Van Haelst, Mieke
Van Maldergem, Lionel
Cárdenas-de-la-Parra, Alonso
Martin-Brevet, Sandra
Moreau, Clara
Rodriguez-Herreros, Borja
Fonov, Vladimir S.
Maillard, Anne M.
Zürcher, Nicole R.
Hadjikhani, Nouchine
Beckmann, Jacques S.
Reymond, Alexandre
Draganski, Bogdan
Jacquemont, Sébastien
Collins, D. Louis
Pokaż więcej
Źródło:
In NeuroImage December 2019 203
Czasopismo naukowe
Szczegóły
Tytuł:
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Autorzy:
Bakshi, Madhura
Wilson, Meredith
Berman, Yemina
Dickson, Rebecca
Fransen, Erik
Helsmoortel, Céline
Van den Ende, Jenneke
Van der Aa, Nathalie
van de Wijdeven, Marina J.
Rosenblum, Jessica
Monteiro, Fabíola
Kok, Fernando
Quercia, Nada
Bowdin, Sarah
Dyment, David
Chitayat, David
Alkhunaizi, Ebba
Boonen, Susanne E.
Keren, Boris
Jacquette, Aurelia
Faivre, Laurence
Bezieau, Stephane
Isidor, Bertrand
Rieß, Angelika
Moog, Ute
Lynch, Sally Ann
McVeigh, Terri
Elpeleg, Orly
Smeland, Marie Falkenberg
Fannemel, Madeleine
van Haeringen, Arie
Maas, Saskia M.
Veenstra-Knol, H.E.
Schouten, Meyke
Willemsen, Marjolein H.
Marcelis, Carlo L.
Ockeloen, Charlotte
van der Burgt, Ineke
Feenstra, Ilse
van der Smagt, Jasper
Jezela-Stanek, Aleksandra
Krajewska-Walasek, Malgorzata
González-Lamuño, Domingo
Anderlid, Britt-Marie
Malmgren, Helena
Nordenskjöld, Magnus
Clement, Emma
Hurst, Jane
Metcalfe, Kay
Mansour, Sahar
Lachlan, Katherine
Clayton-Smith, Jill
Hendon, Laura G.
Abdulrahman, Omar A.
Morrow, Eric
McMillan, Clare
Gerdts, Jennifer
Peeden, Joseph
Schrier Vergano, Samantha A.
Valentino, Caitlin
Chung, Wendy K.
Ozmore, Jillian R.
Bedrosian-Sermone, Sandra
Dennis, Anna
Treat, Kayla
Hughes, Susan Starling
Safina, Nicole
Le Pichon, Jean-Baptiste
McGuire, Marianne
Infante, Elena
Madan-Khetarpal, Suneeta
Desai, Sonal
Benke, Paul
Krokosky, Alyson
Cristian, Ingrid
Baker, Laura
Gripp, Karen
Stessman, Holly A.
Eichenberger, Jacob
Jayakar, Parul
Pizzino, Amy
Manning, Melanie Ann
Slattery, Leah
Van Dijck, Anke
Vulto-van Silfhout, Anneke T.
Cappuyns, Elisa
van der Werf, Ilse M.
Mancini, Grazia M.
Tzschach, Andreas
Bernier, Raphael
Gozes, Illana
Eichler, Evan E.
Romano, Corrado
Lindstrand, Anna
Nordgren, Ann
Kvarnung, Malin
Kleefstra, Tjitske
de Vries, Bert B.A.
Küry, Sébastien
Rosenfeld, Jill A.
Meuwissen, Marije E.
Vandeweyer, Geert
Kooy, R. Frank
Pokaż więcej
Źródło:
In Biological Psychiatry 15 February 2019 85(4):287-297
Czasopismo naukowe
Szczegóły
Tytuł:
Spectre clinique et mutationnel des malformations vasculaires cutanées hypertrophiques associées aux variants de PIK3R1
Autorzy:
Kuentz, Paul
Engel, Camille
Laeng, Mathieu
Chevarin, Martin
Aubert, Hélène
Mercier, Sandra
Isidor, Bertrand
Phan, Alice
Boccara, Olivia
Bessis, Didier
Morice-Picard, Fanny
Ott, Hagen
Guérot, Anne-Marie
Mazereeuw-Hautier, Juliette
Maruani, Annabel
Puzenat, Eve
Thauvin-Robinet, Christel
Faivre, Laurence
Vabres, Pierre
Pokaż więcej
Źródło:
In Morphologie December 2023 107(359) Supplement
Czasopismo naukowe
Szczegóły
Tytuł:
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Autorzy:
Addor, Marie-Claude
Andrieux, Joris
Arveiler, Benoît
Baujat, Geneviève
Sloan-Béna, Frédérique
Belfiore, Marco
Bonneau, Dominique
Bouquillon, Sonia
Boute, Odile
Brusco, Alfredo
Busa, Tiffany
Caberg, Jean-Hubert
Campion, Dominique
Colombert, Vanessa
Cordier, Marie-Pierre
David, Albert
Debray, François-Guillaume
Delrue, Marie-Ange
Doco-Fenzy, Martine
Dunkhase-Heinl, Ulrike
Edery, Patrick
Fagerberg, Christina
Faivre, Laurence
Forzano, Francesca
Genevieve, David
Gérard, Marion
Giachino, Daniela
Guichet, Agnès
Guillin, Olivier
Héron, Delphine
Isidor, Bertrand
Jacquette, Aurélia
Jaillard, Sylvie
Journel, Hubert
Keren, Boris
Lacombe, Didier
Lebon, Sébastien
Le Caignec, Cédric
Lemaître, Marie-Pierre
Lespinasse, James
Mathieu-Dramart, Michèle
Mercier, Sandra
Mignot, Cyril
Missirian, Chantal
Petit, Florence
Pilekær Sørensen, Kristina
Pinson, Lucile
Plessis, Ghislaine
Prieur, Fabienne
Rooryck-Thambo, Caroline
Rossi, Massimiliano
Sanlaville, Damien
Schlott Kristiansen, Britta
Schluth-Bolard, Caroline
Till, Marianne
Van Haelst, Mieke
Van Maldergem, Lionel
Alupay, Hanalore
Aaronson, Benjamin
Ackerman, Sean
Ankenman, Katy
Anwar, Ayesha
Atwell, Constance
Bowe, Alexandra
Beaudet, Arthur L.
Benedetti, Marta
Berg, Jessica
Berman, Jeffrey
Berry, Leandra N.
Bibb, Audrey L.
Blaskey, Lisa
Brennan, Jonathan
Brewton, Christie M.
Buckner, Randy
Bukshpun, Polina
Burko, Jordan
Cali, Phil
Cerban, Bettina
Chang, Yishin
Cheong, Maxwell
Chow, Vivian
Chu, Zili
Chudnovskaya, Darina
Cornew, Lauren
Dale, Corby
Dell, John
Dempsey, Allison G.
Deschamps, Trent
Earl, Rachel
Edgar, James
Elgin, Jenna
Olson, Jennifer Endre
Evans, Yolanda L.
Findlay, Anne
Fischbach, Gerald D.
Fisk, Charlie
Fregeau, Brieana
Gaetz, Bill
Gaetz, Leah
Garza, Silvia
Gerdts, Jennifer
Glenn, Orit
Gobuty, Sarah E.
Golembski, Rachel
Greenup, Marion
Heiken, Kory
Hines, Katherine
Hinkley, Leighton
Jackson, Frank I.
Jenkins, Julian, III
Jeremy, Rita J.
Johnson, Kelly
Kanne, Stephen M.
Kessler, Sudha
Khan, Sarah Y.
Ku, Matthew
Kuschner, Emily
Laakman, Anna L.
Lam, Peter
Lasala, Morgan W.
Lee, Hana
LaGuerre, Kevin
Levy, Susan
Cavanagh, Alyss Lian
Llorens, Ashlie V.
Campe, Katherine Loftus
Luks, Tracy L.
Marco, Elysa J.
Martin, Stephen
Martin, Alastair J.
Marzano, Gabriela
Masson, Christina
McGovern, Kathleen E.
McNally Keehn, Rebecca
Miller, David T.
Miller, Fiona K.
Moss, Timothy J.
Murray, Rebecca
Nagarajan, Srikantan S.
Nowell, Kerri P.
Owen, Julia
Paal, Andrea M.
Packer, Alan
Page, Patricia Z.
Paul, Brianna M.
Peters, Alana
Peterson, Danica
Poduri, Annapurna
Pojman, Nicholas J.
Porche, Ken
Proud, Monica B.
Qasmieh, Saba
Ramocki, Melissa B.
Reilly, Beau
Roberts, Timothy P.L.
Shaw, Dennis
Sinha, Tuhin
Smith-Packard, Bethanny
Gallagher, Anne Snow
Swarnakar, Vivek
Thieu, Tony
Triantafallou, Christina
Vaughan, Roger
Wakahiro, Mari
Wallace, Arianne
Ward, Tracey
Wenegrat, Julia
Wolken, Anne
Martin-Brevet, Sandra
Rodríguez-Herreros, Borja
Nielsen, Jared A.
Moreau, Clara
Modenato, Claudia
Maillard, Anne M.
Pain, Aurélie
Richetin, Sonia
Jønch, Aia E.
Qureshi, Abid Y.
Zürcher, Nicole R.
Conus, Philippe
Chung, Wendy K.
Sherr, Elliott H.
Spiro, John E.
Kherif, Ferath
Beckmann, Jacques S.
Hadjikhani, Nouchine
Reymond, Alexandre
Buckner, Randy L.
Draganski, Bogdan
Jacquemont, Sébastien
Pokaż więcej
Źródło:
In Biological Psychiatry 15 August 2018 84(4):253-264
Czasopismo naukowe
Szczegóły
Tytuł:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Autorzy:
Gillentine, Madelyn A.
Wang, Tianyun
Hoekzema, Kendra
Rosenfeld, JillAff2, Aff3
Liu, Pengfei
Guo, HuiAff1, Aff4
Kim, Chang N.Aff5, Aff6, Aff7, Aff8
De Vries, Bert B. A.
Vissers, Lisenka E. L. M.
Nordenskjold, MagnusAff10, Aff11
Kvarnung, MalinAff10, Aff11
Lindstrand, AnnaAff10, Aff11
Nordgren, AnnAff10, Aff11
Gecz, JozefAff12, Aff13, Aff14
Iascone, Maria
Cereda, Anna
Scatigno, Agnese
Maitz, Silvia
Zanni, Ginevra
Bertini, Enrico
Zweier, Christiane
Schuhmann, Sarah
Wiesener, Antje
Pepper, MicahAff20, Aff21
Panjwani, HeenaAff20, Aff21
Torti, Erin
Abid, FaridaAff23, Aff24
Anselm, Irina
Srivastava, Siddharth
Atwal, Paldeep
Bacino, Carlos A.
Bhat, Gifty
Cobian, Katherine
Bird, Lynne M.Aff28, Aff29
Friedman, JenniferAff28, Aff30, Aff31
Wright, Meredith S.Aff28, Aff30
Callewaert, Bert
Petit, Florence
Mathieu, Sophie
Afenjar, Alexandra
Christensen, Celenie K.
White, Kerry M.
Elpeleg, Orly
Berger, ItaiAff38, Aff39
Espineli, Edward J.Aff23, Aff24
Fagerberg, Christina
Brasch-Andersen, Charlotte
Hansen, Lars Kjærsgaard
Feyma, Timothy
Hughes, SusanAff43, Aff44
Thiffault, IsabelleAff44, Aff45
Sullivan, Bonnie
Yan, Shuang
Keller, Kory
Keren, Boris
Mignot, Cyril
Kooy, Frank
Meuwissen, Marije
Basinger, Alice
Kukolich, Mary
Philips, Meredith
Ortega, Lucia
Drummond-Borg, Margaret
Lauridsen, Mathilde
Sorensen, Kristina
Lehman, AnnaAff50, Aff51
Lopez-Rangel, ElenaAff50, Aff52, Aff53
Levy, Paul
Lessel, Davor
Lotze, Timothy
Madan-Khetarpal, SuneetaAff56, Aff57
Sebastian, Jessica
Vento, Jodie
Vats, Divya
Benman, L. Manace
Mckee, Shane
Mirzaa, Ghayda M.Aff61, Aff62, Aff63
Muss, Candace
Pappas, John
Peeters, Hilde
Romano, Corrado
Elia, Maurizio
Galesi, Ornella
Simon, Marleen E. H.
van Gassen, Koen L. I.
Simpson, Kara
Stratton, Robert
Syed, Sabeen
Thevenon, Julien
Palafoll, Irene Valenzuela
Vitobello, AntonioAff74, Aff75
Bournez, MarieAff76, Aff77
Faivre, LaurenceAff75, Aff77
Xia, Kun
Earl, Rachel K.Aff20, Aff21, Aff78
Nowakowski, TomaszAff5, Aff6, Aff7, Aff8
Bernier, Raphael A.Aff20, Aff21, Aff78
Eichler, Evan E.Aff1, Aff79, IDs13073021008706_cor100
Pokaż więcej
Źródło:
Genome Medicine. 13(1)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Autorzy:
Ribeiro Guerra, MaximilianoAff1, Aff2, Aff3, Aff4, Aff5
Coignard, JulietteAff1, Aff2, Aff3, Aff4
Eon-Marchais, SéverineAff1, Aff2, Aff3, Aff4
Dondon, Marie-GabrielleAff1, Aff2, Aff3, Aff4
Le Gal, DorothéeAff1, Aff2, Aff3, Aff4
Beauvallet, JuanaAff1, Aff2, Aff3, Aff4
Mebirouk, NouraAff1, Aff2, Aff3, Aff4
Belotti, Muriel
Caron, Olivier
Gauthier-Villars, Marion
Coupier, IsabelleAff8, Aff9
Buecher, Bruno
Lortholary, Alain
Fricker, Jean-Pierre
Gesta, Paul
Noguès, CatherineAff13, Aff14
Faivre, LaurenceAff15, Aff16
Berthet, Pascaline
Luporsi, Elisabeth
Delnatte, Capucine
Bonadona, ValérieAff20, Aff21, Aff22
Maugard, Christine M.Aff23, Aff24
Pujol, PascalAff8, Aff9
Lasset, ChristineAff20, Aff21, Aff22
Longy, Michel
Bignon, Yves-Jean
Adenis-Lavignasse, Claude
Venat-Bouvet, Laurence
Dreyfus, HélèneAff29, Aff30
Gladieff, Laurence
Mortemousque, Isabelle
Audebert-Bellanger, Séverine
Soubrier, Florent
Giraud, Sophie
Lejeune-Dumoulin, Sophie
Limacher, Jean-Marc
Chiesa, Jean
Fajac, Anne
Floquet, Anne
Eisinger, FrançoisAff13, Aff14
Tinat, Julie
Fert-Ferrer, Sandra
Colas, ChrystelleAff6, Aff42
Frebourg, Thierry
Damiola, Francesca
Barjhoux, Laure
Cavaciuti, EveAff1, Aff2, Aff3, Aff4
Mazoyer, Sylvie
Tardivon, Anne
Lesueur, FabienneAff1, Aff2, Aff3, Aff4
Stoppa-Lyonnet, DominiqueAff6, Aff48, Aff49
Andrieu, NadineAff1, Aff2, Aff3, Aff4
Pokaż więcej
Źródło:
Breast Cancer Research. 23(1)
Czasopismo naukowe
Szczegóły
Tytuł:
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
Autorzy:
Gabrielle, Pierre-Henry
Faivre, LaurenceAff2, Aff3, Aff4
Audo, IsabelleAff5, Aff6
Zanlonghi, Xavier
Dollfus, HélèneAff8, Aff9
Thiadens, Alberta A. H. J.
Zeitz, Christina
Mancini, Grazia M. S.
Perdomo, YaumaraAff8, Aff9
Mohand-Saïd, SaddekAff5, Aff6
Lizé, Eléonore
Lhussiez, Vincent
Nandrot, Emeline F.
Acar, Niyazi
Creuzot-Garcher, CatherineAff1, Aff12
Sahel, José-AlainAff5, Aff6, Aff13
Ansar, MuhammadAff14, Aff16
Thauvin-Robinet, ChristelAff2, Aff3, Aff15
Duplomb, LaurenceAff2, Aff3
Da Costa, RomainAff2, Aff3
Pokaż więcej
Źródło:
Scientific Reports. 11(1)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Autorzy:
Tran Mau-Them, FredericAff1, Aff2
Moutton, SebastienAff1, Aff3
Racine, Caroline
Vitobello, AntonioAff1, Aff2
Bruel, Ange-LineAff1, Aff2
Nambot, SophieAff1, Aff3
Kushner, Steven A.
de Vrij, Femke M. S.
Lehalle, DaphnéAff1, Aff3
Jean-Marçais, Nolwenn
Lecoquierre, François
Delanne, Julian
Thevenon, Julien
Poe, Charlotte
Jouan, Thibaut
Chevarin, Martin
Geneviève, DavidAff5, Aff6
Willems, Marjolaine
Coubes, Christine
Houcinat, NadaAff1, Aff3
Masurel-Paulet, Alice
Mosca-Boidron, Anne-LaureAff1, Aff2
Tisserant, Emilie
Callier, PatrickAff1, Aff2
Sorlin, ArthurAff1, Aff2, Aff3
Duffourd, Yannis
Faivre, LaurenceAff1, Aff3
Philippe, ChristopheAff1, Aff2
Thauvin-Robinet, ChristelAff1, Aff2, Aff3, Aff7
Pokaż więcej
Źródło:
Human Genetics. 139(11):1381-1390
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-50 z 884

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