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Tytuł :
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Autorzy :
Zanoni, Paolo
Steindl, Katharina
Sengupta, Deepanwita
Joset, Pascal
Bahr, Angela
Sticht, Heinrich
Lang-Muritano, MariarosariaAff4, Aff5
van Ravenswaaij-Arts, Conny M. A.
Shinawi, Marwan
Andrews, Marisa
Attie-Bitach, TaniaAff8, Aff9
Maystadt, IsabelleAff10, Aff11
Belnap, NewellAff12, Aff13
Benoit, ValerieAff10, Aff14
Delplancq, GeoffroyAff15, Aff16
de Vries, Bert B. A.
Grotto, Sarah
Lacombe, Didier
Larson, Austin
Mourmans, Jeroen
Õunap, KatrinAff22, Aff23
Petrilli, Giulia
Pfundt, Rolph
Ramsey, KeriAff12, Aff13
Blok, Lot Snijders
Tsatsaris, Vassilis
Vitobello, Antonio
Faivre, Laurence
Wheeler, Patricia G.
Wevers, Marijke R.
Wojcik, MonicaAff27, Aff28
Zweier, Markus
Gozani, Or
Rauch, AnitaAff1, Aff29, Aff30
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1474-1483
Czasopismo naukowe
Tytuł :
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Autorzy :
Blackburn, Alexandria T. M.Aff1, Aff2
Bekheirnia, NasimAff3, Aff4, Aff5
Uma, Vanessa C.
Corkins, Mark E.
Xu, YuxiaoAff6, Aff7
Rosenfeld, Jill A.
Bainbridge, Matthew N.Aff9, Aff10
Yang, YapingAff8, Aff11
Liu, PengfeiAff5, Aff8, Aff11
Madan-Khetarpal, Suneeta
Delgado, Mauricio R.
Hudgins, Louanne
Krantz, Ian
Rodriguez-Buritica, David
Wheeler, Patricia G.
Al-Gazali, Lihadh
Mohamed Saeed Mohamed Al Shamsi, Aisha
Gomez-Ospina, Natalia
Chao, Hsiao-TuanAff8, Aff20, Aff21, Aff22, Aff23
Mirzaa, Ghayda M.Aff24, Aff25
Scheuerle, Angela E.
Kukolich, Mary K.
Scaglia, FernandoAff4, Aff8, Aff28
Eng, ChristineAff5, Aff8, Aff11
Willsey, Helen RankinAff6, Aff7
Braun, Michael C.Aff3, Aff4, Aff5
Lamb, Dolores J.
Miller, Rachel K.Aff1, Aff2, Aff30, Aff31
Bekheirnia, Mir RezaAff3, Aff4, Aff5, Aff8
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2755-2764
Czasopismo naukowe
Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Autorzy :
van der Sluijs, Pleuntje J.
Jansen, Sandra
Vergano, Samantha A.
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K.
Bok, Levinus A.
Brouwer, Alwin F. J.
van der Burgt, Ineke
Campeau, Philippe M.
Canham, NatalieAff15, Aff16
Chrzanowska, Krystyna
Chu, Yoyo W. Y.
Chung, Brain H. Y.
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R.
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H.
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R.
Herkert, Johanna C.
den Hollander, Nicolette S.
Horn, Denise
Hunt, David
Kant, Sarina G.
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W.
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M. S.
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B.
Netzer, Christian
Ockeloen, Charlotte W.
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N. M.
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P.
Roifman, MaianAff55, Aff56
Rooryck, Caroline
Ropers, Fabienne G.
Rosello, Monica
Ruivenkamp, Claudia A. L.
Sagiroglu, Mahmut S.
Sallevelt, Suzanne C. E. H.
Sanchis Calvo, Amparo
Simsek-Kiper, Pelin O.
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tanabe, Saori
Uctepe, Eyyup
Utine, G. Eda
Veenstra-Knol, Hermine E.
Venkateswaran, Sunita
Vilain, CathelineAff70, Aff71
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T.
Wheeler, Patricia
Wilson, Golder N.
Wilson, Louise C.
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B. A.
Clayton-Smith, Jill
Santen, Gijs W. E.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1295-1307
Czasopismo naukowe
Tytuł :
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Autorzy :
Blackburn, Alexandria T. M.Aff1, Aff2
Bekheirnia, NasimAff3, Aff4, Aff5
Uma, Vanessa C.
Corkins, Mark E.
Xu, YuxiaoAff6, Aff7
Rosenfeld, Jill A.
Bainbridge, Matthew N.Aff9, Aff10
Yang, YapingAff8, Aff11
Liu, PengfeiAff5, Aff8, Aff11
Madan-Khetarpal, Suneeta
Delgado, Mauricio R.
Hudgins, Louanne
Krantz, Ian
Rodriguez-Buritica, David
Wheeler, Patricia G.
Al-Gazali, Lihadh
Shamsi, Aisha Mohamed Saeed Mohamed Al
Gomez-Ospina, Natalia
Chao, Hsiao-TuanAff8, Aff20, Aff21, Aff22, Aff23
Mirzaa, Ghayda M.Aff24, Aff25
Scheuerle, Angela E.
Kukolich, Mary K.
Scaglia, FernandoAff4, Aff8, Aff28
Eng, ChristineAff5, Aff8, Aff11
Willsey, Helen RankinAff6, Aff7
Braun, Michael C.Aff3, Aff4, Aff5
Lamb, Dolores J.
Miller, Rachel K.Aff1, Aff2, Aff30, Aff31
Bekheirnia, Mir RezaAff3, Aff4, Aff5, Aff8
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(4):821-821
Czasopismo naukowe
Tytuł :
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Snijders Blok, LotAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Autorzy :
van der Sluijs, Pleuntje J.
Jansen, Sandra
Vergano, Samantha A.
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K.
Bok, Levinus A.
Brouwer, Alwin F. J.
van der Burgt, Ineke
Campeau, Philippe M.
Canham, NatalieAff15, Aff16
Chrzanowska, Krystyna
Chu, Yoyo W. Y.
Chung, Brain H. Y.
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R.
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H.
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R.
Herkert, Johanna C.
den Hollander, Nicolette S.
Horn, Denise
Hunt, David
Kant, Sarina G.
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W.
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M. S.
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B.
Netzer, Christian
Ockeloen, Charlotte W.
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N. M.
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P.
Roifman, MaianAff55, Aff56
Rooryck, Caroline
Ropers, Fabienne G.
Rosello, Monica
Ruivenkamp, Claudia A. L.
Sagiroglu, Mahmut S.
Sallevelt, Suzanne C. E. H.
Calvo, Amparo Sanchis
Simsek-Kiper, Pelin O.
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tanabe, Saori
Uctepe, Eyyup
Utine, G. Eda
Veenstra-Knol, Hermine E.
Venkateswaran, Sunita
Vilain, CathelineAff70, Aff71
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T.
Wheeler, Patricia
Wilson, Golder N.
Wilson, Louise C.
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B. A.
Clayton-Smith, Jill
Santen, Gijs W. E.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2160-2161
Czasopismo naukowe
Tytuł :
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Blok, Lot SnijdersAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Snijders Blok, LotAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 9(1)
Czasopismo naukowe
Tytuł :
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Autorzy :
Reis, Linda M.
Costakos, Deborah
Wheeler, Patricia G.
Bardakjian, Tanya
Schneider, Adele
Fung, Simon S. M.
Semina, Elena V.
Pokaż więcej
Temat :
MICROPHTHALMIA
EYE abnormalities
SHORT stature
NEUROBEHAVIORAL disorders
HUMAN chromosome abnormality diagnosis
ALLELES
EYE color
RNA splicing
Źródło :
Clinical Genetics; Mar2021, Vol. 99 Issue 3, p437-442, 6p
Czasopismo naukowe
Tytuł :
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
Autorzy :
Steinfeld, Hallie
Cho, Megan T.
Retterer, Kyle
Person, Rick
Schaefer, G. Bradley
Danylchuk, Noelle
Malik, Saleem
Wechsler, Stephanie Burns
Wheeler, Patricia G.
van Gassen, Koen L.I.
Terhal, P.A.
Verhoeven, Virginie J.M.
van Slegtenhorst, Marjon A.
Monaghan, Kristin G.
Henderson, Lindsay B.
Chung, Wendy K.
Pokaż więcej
Źródło :
neurogenetics. July 2016 17(3):159-164
Czasopismo naukowe
Tytuł :
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Autorzy :
Mirzaa, Ghayda
Chong, Jessica
Piton, Amélie
Popp, Bernt
Foss, Kimberly
Guo, Hui
Harripaul, Ricardo
Xia, Kun
Scheck, Joshua
Aldinger, Kimberly
Sajan, Samin
Tang, Sha
Bonneau, Dominique
Beck, Anita
White, Janson
Mahida, Sonal
Harris, Jacqueline
Smith-Hicks, Constance
Hoyer, Juliane
Zweier, Christiane
Reis, Andre
Thiel, Christian
Jamra, Rami Abou
Zeid, Natasha
Yang, Amy
Farach, Laura
Walsh, Laurence
Payne, Katelyn
Rohena, Luis
Velinov, Milen
Ziegler, Alban
Schaefer, Elise
Gatinois, Vincent
Geneviève, David
Simon, Marleen
Kohler, Jennefer
Rotenberg, Joshua
Wheeler, Patricia
Larson, Austin
Ernst, Michelle
Akman, Cigdem
Westman, Rachel
Blanchet, Patricia
Schillaci, Lori-Anne
Vincent-Delorme, Catherine
Gripp, Karen
Mattioli, Francesca
Guyader, Gwenaël Le
Gérard, Bénédicte
Mathieu-Dramard, Michele
Morin, Gilles
Sasanfar, Roksana
Ayub, Muhammad
Vasli, Nasim
Yang, Sandra
Person, Rick
Monaghan, Kristin
Nickerson, Deborah
Van Binsbergen, Ellen
Enns, Gregory
Dries, Annika
Rowe, Leah
Tsai, Anne
Svihovec, Shayna
Friedman, Jennifer
Agha, Zehra
Qamar, Raheel
Rodan, Lance
Martinez-Agosto, Julian
Ockeloen, Charlotte
Vincent, Marie
Sunderland, William James
Bernstein, Jonathan
Eichler, Evan
Vincent, John
Bamshad, Michael
Pokaż więcej
Temat :
next-generation sequencing
intellectual disability
exome sequencing
ZNF292
autism spectrum disorders
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Źródło :
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩

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