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

Results: 14

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