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Wyszukujesz frazę ""Wheeler, Patricia"" wg kryterium: Autor


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 :
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 :
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: 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 :
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 :
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 :
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

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