Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 2

Results: 12

Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 209, doi. 10.1111/cge.14540

By:

Zarate, Yuri A.;
Bosanko, Katherine;
Derar, Nada;
Fish, Jennifer L.

Publication type:

Article

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 199, doi. 10.1111/cge.14539

By:

Yoon, Jihoon G.;
Yu, Jung Woo;
Shim, Kyu Won;
Kim, Yong Oock;
Lee, Min Goo

Publication type:

Article

Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 193, doi. 10.1111/cge.14537

By:

Freycon, Claire;
Sepulchre, Edith;
Lavallée, Vincent‐Philippe;
Mitchell, David;
MacMillan, Margaret L.;
Vezina, Catherine;
Goudie, Catherine

Publication type:

Article

Heritability of cancers in Japanese population: Estimation from recent cohort data.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 204, doi. 10.1111/cge.14535

By:

Nagao, Yoshiro;
Takeshita, Kei

Publication type:

Article

Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 187, doi. 10.1111/cge.14534

By:

Nitschke, Nikolaj Juul;
Jelsig, Anne Marie;
Lautrup, Charlotte;
Lundsgaard, Malene;
Severinsen, Marianne Tang;
Cowland, Jack Bernard;
Maroun, Lisa Leth;
Andersen, Mette Klarskov;
Grønbæk, Kirsten

Publication type:

Article

Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 180, doi. 10.1111/cge.14532

By:

Pauly, Melissa;
Krumbiegel, Mandy;
Trumpp, Sandra;
Braig, Sonja;
Rupprecht, Thomas;
Kraus, Cornelia;
Uebe, Steffen;
Reis, André;
Vasileiou, Georgia

Publication type:

Article

Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523

By:

Hwang, Narae;
Kim, Sang‐Mi;
Kim, Young‐Gon;
Ha, Changhee;
Lee, Jeehun;
Choi, Byung‐Ok;
Sung, Won Jae;
Kim, Seung Hyun;
Kim, Young Mi;
Lee, Yong‐Wha;
Kim, Jieun;
Kim, Jong‐Won;
Jang, Ja‐Hyun;
Lee, Jiwon;
Park, Hyung‐Doo

Publication type:

Article

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 161, doi. 10.1111/cge.14520

By:

Cheng, Miaomiao;
Bai, Ling;
Yang, Ying;
Liu, Wenwei;
Niu, Xueyang;
Chen, Yi;
Tan, Quanzhen;
Yang, Xiaoling;
Wu, Qixi;
Zhao, Han‐Qing;
Zhang, Yuehua

Publication type:

Article

Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 140, doi. 10.1111/cge.14519

By:

Chengyan, Li;
Chupeng, Xue;
You, Wang;
Yinhui, Chen;
Binglong, Huang;
Dang, Ao;
Ling, Liu;
Chuan, Tian

Publication type:

Article

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 127, doi. 10.1111/cge.14517

By:

Del Pozo‐Valero, Marta;
Almoallem, Basamat;
Dueñas Rey, Alfredo;
Mahieu, Quinten;
Van Heetvelde, Mattias;
Jeddawi, Laila;
Bauwens, Miriam;
De Baere, Elfride

Publication type:

Article

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.

Published in:

Clinical Genetics, 2024, v. 106, n. 2, p. 119, doi. 10.1111/cge.14516

By:

Stawiński, Piotr;
Płoski, Rafał

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 106, n. 2, p. 117, doi. 10.1111/cge.14373
Publication type:: Article