Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 5

Results: 14

Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 478, doi. 10.1111/cge.13622

By:

Erickson, Robert P.;
Lai, Li‐Wen;
Mustacich, Debbie J.;
Bernas, Michael J.;
Kuo, Phillip H.;
Witte, Marlys H.

Publication type:

Article

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 456, doi. 10.1111/cge.13612

By:

Mavioğlu, Rezan Nehir;
Kara, Bülent;
Akansel, Gür;
Nalbant, Gökhan;
Tolun, Aslıhan

Publication type:

Article

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 473, doi. 10.1111/cge.13617

By:

Dong, Weilai;
Baldwin, Clinton;
Choi, Jungmin;
Milunsky, Jeff M.;
Zhang, Junhui;
Bilguvar, Kaya;
Lifton, Richard P.;
Milunsky, Aubrey

Publication type:

Article

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 439, doi. 10.1111/cge.13616

By:

Chen, Cong‐Xin;
Dong, Hai‐Lin;
Wei, Qiao;
Li, Li‐Xi;
Yu, Hao;
Li, Jia‐Qi;
Liu, Gong‐Lu;
Li, Hong‐Fu;
Bai, Ge;
Ma, Huan;
Wu, Zhi‐Ying

Publication type:

Article

Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 411, doi. 10.1111/cge.13607

By:

Lewis, Celine;
Loe, Bao S.;
Sidey‐Gibbons, Chris;
Patch, Christine;
Chitty, Lyn S.;
Sanderson, Saskia C.

Publication type:

Article

Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 461, doi. 10.1111/cge.13613

By:

Salama, Yasser;
Albanyan, Saleh;
Szybowska, Marta;
Bullivant, Garrett;
Gallinger, Bailey;
Giles, Rachel H.;
Asa, Sylvia;
Badduke, Chansonette;
Chiorean, Andreea;
Druker, Harriet;
Ezzat, Shereen;
Hannah‐Shmouni, Fady;
Hernandez, Karen G.;
Inglese, Cara;
Jani, Payal;
Kaur, Yuvreet;
Krema, Hatem;
Krimus, Lior;
Laperriere, Normand;
Lichner, Zsuzanna

Publication type:

Article

p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618

By:

Kernohan, Kristin D.;
McBride, Arran;
Hartley, Taila;
Rojas, Samantha K.;
Dyment, David A.;
Boycott, Kym M.;
Dyack, Sarah

Publication type:

Article

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 429, doi. 10.1111/cge.13610

By:

Hordyjewska‐Kowalczyk, Ewa;
Sowińska‐Seidler, Anna;
Olech, Ewelina M.;
Socha, Magdalena;
Glazar, Renata;
Kruczek, Anna;
Latos‐Bieleńska, Anna;
Tylzanowski, Przemko;
Jamsheer, Aleksander

Publication type:

Article

Serum deprivation response functions as a tumor suppressor gene in papillary thyroid cancer.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 418, doi. 10.1111/cge.13609

By:

Wang, Qing‐Xuan;
Chen, En‐Dong;
Cai, Ye‐Feng;
Zhou, Yi‐Li;
Dong, Si‐Yang;
Zhang, Xiao‐Hua;
Wang, Ou‐Chen;
Li, Quan

Publication type:

Article

FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 468, doi. 10.1111/cge.13614

By:

Krenke, Katarzyna;
Szczałuba, Krzysztof;
Bielecka, Teresa;
Rydzanicz, Małgorzata;
Lange, Joanna;
Koppolu, Agnieszka;
Płoski, Rafał

Publication type:

Article

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 402, doi. 10.1111/cge.13606

By:

Rao, Jia;
Liu, Xiaorong;
Mao, Jianhua;
Tang, Xiaoshan;
Shen, Qian;
Li, Guomin;
Sun, Li;
Bi, Yunli;
Wang, Xiang;
Qian, Yanyan;
Wu, Bingbing;
Wang, Huijun;
Zhou, Wenhao;
Ma, Duan;
Zheng, Bixia;
Shen, Ying;
Chen, Zhi;
Luan, Jiangwei;
Wang, Xiaowen;
Wang, Mo

Publication type:

Article

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 394, doi. 10.1111/cge.13604

By:

Kherraf, Zine‐Eddine;
Cazin, Caroline;
Coutton, Charles;
Amiri‐Yekta, Amir;
Martinez, Guillaume;
Boguenet, Magalie;
Fourati Ben Mustapha, Selima;
Kharouf, Mahmoud;
Gourabi, Hamid;
Hosseini, Seyedeh Hanieh;
Daneshipour, Abbas;
Touré, Aminata;
Thierry‐Mieg, Nicolas;
Zouari, Raoudha;
Arnoult, Christophe;
Ray, Pierre F.

Publication type:

Article

Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 385, doi. 10.1111/cge.13602

By:

Sha, Yanwei;
Liu, Wensheng;
Wei, Xiaoli;
Zhu, Xingshen;
Luo, Xiangmin;
Liang, Lei;
Guo, Tonghang

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2019, v. 96, n. 5, p. 383, doi. 10.1111/cge.13403
Publication type:: Article