Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 3

Results: 14

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 240, doi. 10.1111/cge.13790

By:

Wen, Yongxin;
Wang, Jiaping;
Zhang, Qingping;
Chen, Yan;
Wu, Xiru;
Bao, Xinhua

Publication type:

Article

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 303, doi. 10.1111/cge.13805

By:

David, Odeya;
Eskin‐Schwartz, Marina;
Ling, Galina;
Dolgin, Vadim;
Kristal, Eyal;
Benkowitz, Ela;
Osyntsov, Lidia;
Gradstein, Libe;
Birk, Ohad S.;
Loewenthal, Neta;
Yerushalmi, Baruch

Publication type:

Article

Siblings with a novel MED12 variant and Odho syndrome with immune defects.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 308, doi. 10.1111/cge.13806

By:

Rubin, Zachary;
Grange, Dorothy K.;
Cooper, Megan A.

Publication type:

Article

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 274, doi. 10.1111/cge.13802

By:

Chen, Zhiyong;
Xu, Zheyu;
Cheng, Qianhui;
Tan, Yi Jayne;
Ong, Helen L.;
Zhao, Yi;
Lim, Weng Khong;
Teo, Jing Xian;
Foo, Jia Nee;
Lee, Hwei Yee;
Tan, Jeanne M.M.;
Hang, Liting;
Yu, Wai‐Yung;
Ting, Simon K.S.;
Tan, Eng‐King;
Lim, Tchoyoson C.C.;
Ng, Adeline S.L.

Publication type:

Article

An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 293, doi. 10.1111/cge.13803

By:

Alvarez‐Mora, Maria Isabel;
Todeschini, Anne‐Laure;
Caburet, Sandrine;
Perets, Lilach Peled;
Mila, Montserrat;
Younis, Johnny S.;
Shalev, Stavit;
Veitia, Reiner A.

Publication type:

Article

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 299, doi. 10.1111/cge.13804

By:

Deshwar, Ashish R.;
Martin, Nicole;
Shannon, Patrick;
Chitayat, David

Publication type:

Article

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 261, doi. 10.1111/cge.13801

By:

Billon, Clarisse;
Molin, Arnaud;
Poirsier, Céline;
Clemenson, Alix;
Dauge, Coralie;
Grelet, Maude;
Sigaudy, Sabine;
Patrier, Sophie;
Goldenberg, Alice;
Layet, Valérie;
Tantau, Julia;
Fleury, Clémence;
Liard, Agnès;
Diguet, Alain;
Fritih, Radia;
Verspyck, Eric;
Rendu, John;
Boutaud, Lucile;
Tessier, Aude;
Thomas, Sophie

Publication type:

Article

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 251, doi. 10.1111/cge.13798

By:

Baer, Sarah;
Obringer, Cathy;
Julia, Sophie;
Chelly, Jameleddine;
Capri, Yline;
Gras, Domitille;
Baujat, Geneviève;
Felix, Têmis Maria;
Doray, Berenice;
Sanchez del Pozo, Jaime;
Ramos, Lina M.;
Burglen, Lydie;
Laugel, Vincent;
Calmels, Nadège

Publication type:

Article

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 288, doi. 10.1111/cge.13799

By:

Hamdan, Nadine;
Mehawej, Cybel;
Sebaaly, Ghada;
Jalkh, Nadine;
Corbani, Sandra;
Abou‐Ghoch, Joelle;
De Backer, O.;
Chouery, Eliane

Publication type:

Article

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 282, doi. 10.1111/cge.13797

By:

Waich, Stephanie;
Janecke, Andreas R.;
Parson, Walther;
Greber‐Platzer, Susanne;
Müller, Thomas;
Huber, Lukas A.;
Valovka, Taras;
Vodopiutz, Julia

Publication type:

Article

Genetics of feline hypertrophic cardiomyopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 203, doi. 10.1111/cge.13743

By:

Gil‐Ortuño, Cristina;
Sebastián‐Marcos, Patricia;
Sabater‐Molina, María;
Nicolas‐Rocamora, Elisa;
Gimeno‐Blanes, Juan R.;
Fernández del Palacio, María J.

Publication type:

Article

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 231, doi. 10.1111/cge.13789

By:

Suspitsin, Evgeny N.;
Guseva, Marina N.;
Kostik, Mikhail M.;
Sokolenko, Anna P.;
Skripchenko, Nataliya V.;
Levina, Anastasia S.;
Goleva, Olga V.;
Dubko, Margarita F.;
Tumakova, Anastasia V.;
Makhova, Maria A.;
Lyazina, Lidiya V.;
Bizin, Ilya V.;
Sokolova, Natalia E.;
Gabrusskaya, Tatiana V.;
Ditkovskaya, Liliya V.;
Kozlova, Olga P.;
Vahliarskaya, Svetlana S.;
Kondratenko, Irina V.;
Imyanitov, Evgeny N.

Publication type:

Article

Prenatal exome sequencing in fetuses with congenital heart defects.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 215, doi. 10.1111/cge.13774

By:

Li, Ru;
Fu, Fang;
Yu, Qiuxia;
Wang, Dan;
Jing, Xiangyi;
Zhang, Yongling;
Li, Fucheng;
Li, Fatao;
Han, Jin;
Pan, Min;
Zhen, Li;
Li, Dongzhi;
Liao, Can

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 98, n. 3, p. 201, doi. 10.1111/cge.13575
Publication type:: Article