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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Scholl, Ute I ; Choi, Murim ; Liu, Tiewen ; Ramaekers, Vincent T ; Häusler, Martin G ; Grimmer, Joanne ; Tobe, Sheldon W ; Farhi, Anita ; Nelson-Williams, Carol ; Lifton, Richard P

Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (14), p.5842-5847 [Periódico revisado por pares]

United States: National Academy of Sciences

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2
Kabuki syndrome: international consensus diagnostic criteria
Kabuki syndrome: international consensus diagnostic criteria
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Kabuki syndrome: international consensus diagnostic criteria

Adam, Margaret P ; Banka, Siddharth ; Bjornsson, Hans T ; Bodamer, Olaf ; Chudley, Albert E ; Harris, Jaqueline ; Kawame, Hiroshi ; Lanpher, Brendan C ; Lindsley, Andrew W ; Merla, Giuseppe ; Miyake, Noriko ; Okamoto, Nobuhiko ; Stumpel, Constanze T ; Niikawa, Norio

Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
Congenital Zika Virus Infection: Beyond Neonatal Microcephaly
Congenital Zika Virus Infection: Beyond Neonatal Microcephaly
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Congenital Zika Virus Infection: Beyond Neonatal Microcephaly

Melo, Adriana Suely de Oliveira ; Aguiar, Renato Santana ; Amorim, Melania Maria Ramos ; Arruda, Monica B ; Melo, Fabiana de Oliveira ; Ribeiro, Suelem Taís Clementino ; Batista, Alba Gean Medeiros ; Ferreira, Thales ; dos Santos, Mayra Pereira ; Sampaio, Virgínia Vilar ; Moura, Sarah Rogéria Martins ; Rabello, Luciana Portela ; Gonzaga, Clarissa Emanuelle ; Malinger, Gustavo ; Ximenes, Renato ; de Oliveira-Szejnfeld, Patricia Soares ; Tovar-Moll, Fernanda ; Chimelli, Leila ; Silveira, Paola Paz ; Delvechio, Rodrigo ; Higa, Luiza ; Campanati, Loraine ; Nogueira, Rita M. R ; Filippis, Ana Maria Bispo ; Szejnfeld, Jacob ; Voloch, Carolina Moreira ; Ferreira, Orlando C ; Brindeiro, Rodrigo M ; Tanuri, Amilcar

JAMA neurology, 2016-12, Vol.73 (12), p.1407-1416 [Periódico revisado por pares]

United States: American Medical Association

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4
Malformation syndromes caused by disorders of cholesterol synthesis
Malformation syndromes caused by disorders of cholesterol synthesis
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Malformation syndromes caused by disorders of cholesterol synthesis

Porter, Forbes D. ; Herman, Gail E.

Journal of lipid research, 2011-01, Vol.52 (1), p.6-34 [Periódico revisado por pares]

United States: Elsevier Inc

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5
ANKRD11 variants: KBG syndrome and beyond
ANKRD11 variants: KBG syndrome and beyond
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ANKRD11 variants: KBG syndrome and beyond

Parenti, Ilaria ; Mallozzi, Mark B. ; Hüning, Irina ; Gervasini, Cristina ; Kuechler, Alma ; Agolini, Emanuele ; Albrecht, Beate ; Baquero‐Montoya, Carolina ; Bohring, Axel ; Bramswig, Nuria C. ; Busche, Andreas ; Dalski, Andreas ; Guo, Yiran ; Hanker, Britta ; Hellenbroich, Yorck ; Horn, Denise ; Innes, A. Micheil ; Leoni, Chiara ; Li, Yun R. ; Lynch, Sally Ann ; Mariani, Milena ; Medne, Livija ; Mikat, Barbara ; Milani, Donatella ; Onesimo, Roberta ; Ortiz‐Gonzalez, Xilma ; Prott, Eva Christina ; Reutter, Heiko ; Rossier, Eva ; Selicorni, Angelo ; Wieacker, Peter ; Wilkens, Alisha ; Wieczorek, Dagmar ; Zackai, Elaine H. ; Zampino, Giuseppe ; Zirn, Birgit ; Hakonarson, Hakon ; Deardorff, Matthew A. ; Gillessen‐Kaesbach, Gabriele ; Kaiser, Frank J.

Clinical genetics, 2021-08, Vol.100 (2), p.187-200 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
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Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

Abdel-Wahab, Omar ; Gao, Jie ; Adli, Mazhar ; Dey, Anwesha ; Trimarchi, Thomas ; Chung, Young Rock ; Kuscu, Cem ; Hricik, Todd ; Ndiaye-Lobry, Delphine ; Lafave, Lindsay M ; Koche, Richard ; Shih, Alan H ; Guryanova, Olga A ; Kim, Eunhee ; Li, Sheng ; Pandey, Suveg ; Shin, Joseph Y ; Telis, Leon ; Liu, Jinfeng ; Bhatt, Parva K ; Monette, Sebastien ; Zhao, Xinyang ; Mason, Christopher E ; Park, Christopher Y ; Bernstein, Bradley E ; Aifantis, Iannis ; Levine, Ross L

The Journal of experimental medicine, 2013-11, Vol.210 (12), p.2641-2659 [Periódico revisado por pares]

United States: The Rockefeller University Press

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7
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

Kariminejad, Ariana ; Szenker-Ravi, Emmanuelle ; Lekszas, Caroline ; Tajsharghi, Homa ; Moslemi, Ali-Reza ; Naert, Thomas ; Tran, Hong Thi ; Ahangari, Fatemeh ; Rajaei, Minoo ; Nasseri, Mojila ; Haaf, Thomas ; Azad, Afrooz ; Superti-Furga, Andrea ; Maroofian, Reza ; Ghaderi-Sohi, Siavash ; Najmabadi, Hossein ; Abbaszadegan, Mohammad Reza ; Vleminckx, Kris ; Nikuei, Pooneh ; Reversade, Bruno

American journal of human genetics, 2019-12, Vol.105 (6), p.1294-1301 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Kosho, Tomoki ; Okamoto, Nobuhiko

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.262-275

United States: Blackwell Publishing Ltd

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9
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Fehr, Stephanie ; Wilson, Meredith ; Downs, Jenny ; Williams, Simon ; Murgia, Alessandra ; Sartori, Stefano ; Vecchi, Marilena ; Ho, Gladys ; Polli, Roberta ; Psoni, Stavroula ; Bao, Xinhua ; de Klerk, Nick ; Leonard, Helen ; Christodoulou, John

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.266-273 [Periódico revisado por pares]

England: Nature Publishing Group

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10
The ARID1B phenotype: What we have learned so far
The ARID1B phenotype: What we have learned so far
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The ARID1B phenotype: What we have learned so far

Santen, Gijs W.E. ; Clayton-Smith, Jill

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289

United States: Blackwell Publishing Ltd

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