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Wyszukujesz frazę ""Giess, A."" wg kryterium: Autor


Tytuł:
Positive predictive value of axillary lymph node cortical thickness and nodal, clinical, and tumor characteristics in newly diagnosed breast cancer patients
Autorzy:
Loonis, Anne-Sophie T.Aff1, Aff2
Chesebro, Allyson L.Aff1, Aff2, IDs1054902307155z_cor2
Bay, Camden P.Aff1, Aff3
Portnow, Leah H.Aff1, Aff2
Weiss, AnnaAff1, Aff4, Aff5, Aff6
Chikarmane, Sona A.Aff1, Aff2
Giess, Catherine S.Aff1, Aff2
Pokaż więcej
Źródło:
Breast Cancer Research and Treatment. 203(3):511-521
Czasopismo naukowe
Tytuł:
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
Autorzy:
Julia Oakley
Martin Hill
Adam Giess
Mélanie Tanguy
Greg Elgar
Pokaż więcej
Temat:
AKR1C1
AKR1C2
Fatigue
Neurosteroids
Allopregnanolone
ME/CFS diagnosis
Medicine
Źródło:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-14 (2023)
Opis pliku:
electronic resource
Relacje:
https://doaj.org/toc/1479-5876
Dostęp URL:
https://doaj.org/article/7f35a723b37b4bb3b10fae27e17205c1  Link otwiera się w nowym oknie
Czasopismo naukowe
Tytuł:
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Autorzy:
Ambrose, J.C.
Arumugam, P.
Bevers, R.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Brown, M.A.
Caulfield, M.J.
Chan, G.C.
Giess, A.
Griffin, J.N.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Lakey, A.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
McEntagart, M.
Minneci, F.
Mitchell, J.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
O‘Donovan, P.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Pereira, M.B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smith, S.C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Taylor Tavares, A.L.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Zarowiecki, M.
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth, Aimee
Andrews, Ashley
Ashley, Euan A.
Afzali, Ben
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.
Bennet, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
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
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.
Delgado, Margaret
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
Fu, Jiayu
Gahl, William A.
Glass, Ian
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
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, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
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
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Petcharet, Leoyklang
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sabaii, Marla
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Sharma, Prashant
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin
Sinsheimer, Janet
Sisco, Kathy
Smith, Edward
Smith, Kevin
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca
Stergachis, Andrew
Stoler, Joan
Sullivan, Kathleen
Sullivan, Jennifer
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia
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
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Niggl, Eva
Bouman, Arjan
Hoogenboezem, Remco M.
Wallaard, Ilse
Park, Joohyun
Admard, Jakob
Wilke, Martina
Harris-Mostert, Emilio D.R.O.
Elgersma, Minetta
Bain, Jennifer
Balasubramanian, Meena
Banka, Siddharth
Benke, Paul J.
Bertrand, Miriam
Blesson, Alyssa E.
Clayton-Smith, Jill
Ellingford, Jamie M.
Gillentine, Madelyn A.
Goodloe, Dana H.
Haack, Tobias B.
Jain, Mahim
Krantz, Ian
Luu, Sharon M.
McPheron, Molly
Muss, Candace L.
Raible, Sarah E.
Robin, Nathaniel H.
Spiller, Michael
Starling, Susan
Thiffault, Isabelle
Vetrini, Francesco
Witt, Dennis
Woods, Emily
Zhou, Dihong
Elgersma, Ype
van Esbroeck, Annelot C.M.
Pokaż więcej
Źródło:
In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
Czasopismo naukowe
Tytuł:
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Autorzy:
Pochiero, Francesca
Mari, Francesco
Ramesh, Venkateswaran
Capra, Valeria
Mancardi, Margherita
Keren, Boris
Mignot, Cyiril
Lulli, Matteo
Parks, Kendall
Griffin, Helen
Brugger, Melanie
Nigro, Vincenzo
Hirata, Yuko
Koichihara, Reiko
Peterlin, Borut
Maki, Ryuto
Nitta, Yohei
Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Brown, Matthew A.
Caulfield, Mark J.
Chan, Georgia C.
Giess, Adam
Griffin, John N.
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Lakey, Anna
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Mitchell, Jonathan
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Perez-Gil, Daniel
Pereira, Marina B.
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Zarowiecki, Magdalena
Vetro, Annalisa
Pelorosso, Cristiana
Balestrini, Simona
Masi, Alessio
Hambleton, Sophie
Argilli, Emanuela
Conti, Valerio
Giubbolini, Simone
Barrick, Rebekah
Bergant, Gaber
Writzl, Karin
Bijlsma, Emilia K.
Brunet, Theresa
Cacheiro, Pilar
Mei, Davide
Devlin, Anita
Hoffer, Mariëtte J.V.
Machol, Keren
Mannaioni, Guido
Sakamoto, Masamune
Menezes, Manoj P.
Courtin, Thomas
Sherr, Elliott
Parra, Riccardo
Richardson, Ruth
Roscioli, Tony
Scala, Marcello
von Stülpnagel, Celina
Smedley, Damian
Torella, Annalaura
Tohyama, Jun
Hamada, Keisuke
Ogata, Kazuhiro
Suzuki, Takashi
Sugie, Atsushi
van der Smagt, Jasper J.
van Gassen, Koen
Valence, Stephanie
Vittery, Emma
Malone, Stephen
Kato, Mitsuhiro
Matsumoto, Naomichi
Ratto, Gian Michele
Guerrini, Renzo
Pokaż więcej
Źródło:
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Czasopismo naukowe
Tytuł:
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
Autorzy:
Eric Olinger
Ian J. Wilson
Sarah Orr
Miguel Barroso-Gil
Ruxandra Neatu
Denize Atan
John A. Sayer
John C. Ambrose
Prabhu Arumugam
Roel Bevers
Marta Bleda
Freya Boardman-Pretty
Christopher R. Boustred
Helen Brittain
Mark J. Caulfield
Georgia C. Chan
Greg Elgar
Tom Fowler
Adam Giess
Angela Hamblin
Shirley Henderson
Tim J.P. Hubbard
Rob Jackson
Louise J. Jones
Dalia Kasperaviciute
Melis Kayikci
Athanasios Kousathanas
Lea Lahnstein
Sarah E.A. Leigh
Ivonne U.S. Leong
Javier F. Lopez
Fiona Maleady-Crowe
Meriel McEntagart
Federico Minneci
Loukas Moutsianas
Michael Mueller
Nirupa Murugaesu
Anna C. Need
Peter O’Donovan
Chris A. Odhams
Christine Patch
Mariana Buongermino Pereira
Daniel Perez-Gil
John Pullinger
Tahrima Rahim
Augusto Rendon
Tim Rogers
Kevin Savage
Kushmita Sawant
Richard H. Scott
Afshan Siddiq
Alexander Sieghart
Samuel C. Smith
Alona Sosinsky
Alexander Stuckey
Mélanie Tanguy
Ana Lisa Taylor Tavares
Ellen R.A. Thomas
Simon R. Thompson
Arianna Tucci
Matthew J. Welland
Eleanor Williams
Katarzyna Witkowska
Suzanne M. Wood
Pokaż więcej
Temat:
CNV analysis
Genome sequencing
NPHP1
Retinopathy
SLC66A1
Genetics
QH426-470
Medicine
Źródło:
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Opis pliku:
electronic resource
Relacje:
http://www.sciencedirect.com/science/article/pii/S2949774424009804; https://doaj.org/toc/2949-7744
Dostęp URL:
https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212  Link otwiera się w nowym oknie
Czasopismo naukowe
Tytuł:
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Autorzy:
Adam Jackson
Sheng-Jia Lin
Elizabeth A. Jones
Kate E. Chandler
David Orr
Celia Moss
Zahra Haider
Gavin Ryan
Simon Holden
Mike Harrison
Nigel Burrows
Wendy D. Jones
Mary Loveless
Cassidy Petree
Helen Stewart
Karen Low
Deirdre Donnelly
Simon Lovell
Konstantina Drosou
Gaurav K. Varshney
Siddharth Banka
J.C. Ambrose
P. Arumugam
R. Bevers
M. Bleda
F. Boardman-Pretty
C.R. Boustred
H. Brittain
M.A. Brown
M.J. Caulfield
G.C. Chan
A. Giess
J.N. Griffin
A. Hamblin
S. Henderson
T.J.P. Hubbard
R. Jackson
L.J. Jones
D. Kasperaviciute
M. Kayikci
A. Kousathanas
L. Lahnstein
A. Lakey
S.E.A. Leigh
I.U.S. Leong
F.J. Lopez
F. Maleady-Crowe
M. McEntagart
F. Minneci
J. Mitchell
L. Moutsianas
M. Mueller
N. Murugaesu
A.C. Need
P. O‘Donovan
C.A. Odhams
C. Patch
D. Perez-Gil
M.B. Pereira
J. Pullinger
T. Rahim
A. Rendon
T. Rogers
K. Savage
K. Sawant
R.H. Scott
A. Siddiq
A. Sieghart
S.C. Smith
A. Sosinsky
A. Stuckey
M. Tanguy
A.L. Taylor Tavares
E.R.A. Thomas
S.R. Thompson
A. Tucci
M.J. Welland
E. Williams
K. Witkowska
S.M. Wood
M. Zarowiecki
Olaf Riess
Tobias B. Haack
Holm Graessner
Birte Zurek
Kornelia Ellwanger
Stephan Ossowski
German Demidov
Marc Sturm
Julia M. Schulze-Hentrich
Rebecca Schüle
Christoph Kessler
Melanie Wayand
Matthis Synofzik
Carlo Wilke
Andreas Traschütz
Ludger Schöls
Holger Hengel
Peter Heutink
Han Brunner
Hans Scheffer
Nicoline Hoogerbrugge
Alexander Hoischen
Peter A.C. ’t Hoen
Lisenka E.L.M. Vissers
Christian Gilissen
Wouter Steyaert
Karolis Sablauskas
Richarda M. de Voer
Erik-Jan Kamsteeg
Bart van de Warrenburg
Nienke van Os
Iris te Paske
Erik Janssen
Elke de Boer
Marloes Steehouwer
Burcu Yaldiz
Tjitske Kleefstra
Anthony J. Brookes
Colin Veal
Spencer Gibson
Marc Wadsley
Mehdi Mehtarizadeh
Umar Riaz
Greg Warren
Farid Yavari Dizjikan
Thomas Shorter
Ana Töpf
Volker Straub
Chiara Marini Bettolo
Sabine Specht
Jill Clayton-Smith
Elizabeth Alexander
Laurence Faivre
Christel Thauvin
Antonio Vitobello
Anne-Sophie Denommé-Pichon
Yannis Duffourd
Emilie Tisserant
Ange-Line Bruel
Christine Peyron
Aurore Pélissier
Sergi Beltran
Ivo Glynne Gut
Steven Laurie
Davide Piscia
Leslie Matalonga
Anastasios Papakonstantinou
Gemma Bullich
Alberto Corvo
Carles Garcia
Marcos Fernandez-Callejo
Carles Hernández
Daniel Picó
Ida Paramonov
Hanns Lochmüller
Gulcin Gumus
Virginie Bros-Facer
Ana Rath
Marc Hanauer
Annie Olry
David Lagorce
Svitlana Havrylenko
Katia Izem
Fanny Rigour
Giovanni Stevanin
Alexandra Durr
Claire-Sophie Davoine
Léna Guillot-Noel
Anna Heinzmann
Giulia Coarelli
Gisèle Bonne
Teresinha Evangelista
Valérie Allamand
Isabelle Nelson
Rabah Ben Yaou
Corinne Metay
Bruno Eymard
Enzo Cohen
Antonio Atalaia
Tanya Stojkovic
Milan Macek, Jr.
Marek Turnovec
Dana Thomasová
Radka Pourová Kremliková
Vera Franková
Markéta Havlovicová
Vlastimil Kremlik
Helen Parkinson
Thomas Keane
Dylan Spalding
Alexander Senf
Peter Robinson
Daniel Danis
Glenn Robert
Alessia Costa
Christine Patch
Mike Hanna
Henry Houlden
Mary Reilly
Jana Vandrovcova
Francesco Muntoni
Irina Zaharieva
Anna Sarkozy
Vincent Timmerman
Jonathan Baets
Liedewei Van de Vondel
Danique Beijer
Peter de Jonghe
Vincenzo Nigro
Sandro Banfi
Annalaura Torella
Francesco Musacchia
Giulio Piluso
Alessandra Ferlini
Rita Selvatici
Rachele Rossi
Marcella Neri
Stefan Aretz
Isabel Spier
Anna Katharina Sommer
Sophia Peters
Carla Oliveira
Jose Garcia Pelaez
Ana Rita Matos
Celina São José
Marta Ferreira
Irene Gullo
Susana Fernandes
Luzia Garrido
Pedro Ferreira
Fátima Carneiro
Morris A. Swertz
Lennart Johansson
Joeri K. van der Velde
Gerben van der Vries
Pieter B. Neerincx
Dieuwke Roelofs-Prins
Sebastian Köhler
Alison Metcalfe
Alain Verloes
Séverine Drunat
Caroline Rooryck
Aurelien Trimouille
Raffaele Castello
Manuela Morleo
Michele Pinelli
Alessandra Varavallo
Manuel Posada De la Paz
Eva Bermejo Sánchez
Estrella López Martín
Beatriz Martínez Delgado
F. Javier Alonso García de la Rosa
Andrea Ciolfi
Bruno Dallapiccola
Simone Pizzi
Francesca Clementina Radio
Marco Tartaglia
Alessandra Renieri
Elisa Benetti
Peter Balicza
Maria Judit Molnar
Ales Maver
Borut Peterlin
Alexander Münchau
Katja Lohmann
Rebecca Herzog
Martje Pauly
Alfons Macaya
Anna Marcé-Grau
Andres Nascimiento Osorio
Daniel Natera de Benito
Rachel Thompson
Kiran Polavarapu
David Beeson
Judith Cossins
Pedro M. Rodriguez Cruz
Peter Hackman
Mridul Johari
Marco Savarese
Bjarne Udd
Rita Horvath
Gabriel Capella
Laura Valle
Elke Holinski-Feder
Andreas Laner
Verena Steinke-Lange
Evelin Schröck
Andreas Rump
Pokaż więcej
Temat:
TSPEAR
Ectodermal dysplasia
Enamel knot
WNT10A
Hypodontia
Conical teeth
Genetics
QH426-470
Źródło:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Opis pliku:
electronic resource
Relacje:
http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477
Dostęp URL:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52  Link otwiera się w nowym oknie
Czasopismo naukowe

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