Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 1

Results: 15

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 13, doi. 10.1111/cge.14446

By:

Kim, Sunu;
Pistawka, Carly;
Langlois, Sylvie;
Osiovich, Horacio;
Virani, Alice;
Kitchin, Vanessa;
Elliott, Alison M.

Publication type:

Article

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 106, doi. 10.1111/cge.14444

By:

Waheed, Nadia;
Waris, Rehmana;
Naseer, Maryam;
Razzaq, Ayesha;
Suleman, Sufyan;
Ullah, Asmat

Publication type:

Article

The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 62, doi. 10.1111/cge.14437

By:

Sullivan, Jennifer A.;
Spillmann, Rebecca C.;
Schoch, Kelly;
Walley, Nicole;
Alkelai, Anna;
Stong, Nicholas;
Shea, Patrick R.;
Petrovski, Slavè;
Jobanputra, Vaidehi;
McConkie‐Rosell, Allyn;
Shashi, Vandana

Publication type:

Article

Delineating the phenotype of PNPLA8‐related mitochondriopathies.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.;
Abdel‐Ghafar, Sherif F.;
Zaki, Maha S.

Publication type:

Article

Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disorders.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 52, doi. 10.1111/cge.14434

By:

Kong, Lingrong;
Li, Shaojun;
Zhao, Zhenhua;
Feng, Jun;
Fu, Xinyu;
Li, Huanyun;
Zhu, Jingqi;
Wang, Yanan;
Tang, Weiqin;
Yuan, Chao;
Li, Feifei;
Han, Xiujuan;
Wu, Di;
Kong, Xiangdong;
Sun, Luming

Publication type:

Article

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432

By:

Eskin‐Schwartz, Marina;
Dolgin, Vadim;
Didkovsky, Elena;
Aminov, Ilana;
Pikovsky, Anna;
Hadar, Noam;
Kristal, Eyal;
Ling, Galina;
Cohen, Idan;
Zilberman, Uri;
Birk, Ohad S.

Publication type:

Article

Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 109, doi. 10.1111/cge.14430

By:

Abdullah;
Hussain, Shabir;
Ji, Weizhen;
Khan, Hammal;
Mis, Emily K.;
Mushtaq, Rabiha;
Chodhary, Mirub;
Raza, Muhammad Hassan;
Jan, Abid;
Ullah, Imran;
Khokha, Mustafa K.;
Lakhani, Saquib A.;
Ahmad, Wasim

Publication type:

Article

Novel MEIOB pathogenic variants including a homozygous non‐canonical splicing variant, cause meiotic arrest and human non‐obstructive azoospermia.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 99, doi. 10.1111/cge.14426

By:

Zhu, Xiaoyu;
Hu, Kaiqin;
Cheng, Huiru;
Wu, Huan;
Li, Kuokuo;
Gao, Yang;
Lv, Mingrong;
Xu, Chuan;
Geng, Hao;
Shen, Qunshan;
Cao, Yunxia;
He, Xiaojin;
Tang, Dongdong;
Guo, Rui

Publication type:

Article

Genetic backgrounds and diagnosis of familial hypercholesterolemia.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 3, doi. 10.1111/cge.14435

By:

Rogozik, Joanna;
Główczyńska, Renata;
Grabowski, Marcin

Publication type:

Article

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 87, doi. 10.1111/cge.14419

By:

Batkovskyte, Dominyka;
Komatsu, Maya;
Hammarsjö, Anna;
Pooh, Ritsuko;
Shimokawa, Osamu;
Ikegawa, Shiro;
Grigelioniene, Giedre;
Nishimura, Gen;
Yamada, Takahiro

Publication type:

Article

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 34, doi. 10.1111/cge.14415

By:

Britten‐Jones, Alexis Ceecee;
Mack, Heather G.;
Vincent, Andrea L.;
Hill, Lisa J.;
Edwards, Thomas L.;
Ayton, Lauren N.

Publication type:

Article

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 81, doi. 10.1111/cge.14414

By:

Pasquetti, Domizia;
L'Erario, Federica Francesca;
Marangi, Giuseppe;
Panfili, Arianna;
Chiurazzi, Pietro;
Sonnini, Elena;
Orteschi, Daniela;
Alfieri, Paolo;
Morleo, Manuela;
Nigro, Vincenzo;
Zollino, Marcella

Publication type:

Article

A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 77, doi. 10.1111/cge.14411

By:

Levy, Amanda M.;
Ganapathi, Mythily;
Chung, Wendy K.;
Tümer, Zeynep

Publication type:

Article

Human phenotype caused by biallelic KDM4B frameshift variant.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 72, doi. 10.1111/cge.14409

By:

Takada, Sanami;
Silva, Sebastián;
Zamorano, Ivonne;
Pérez, Andrea;
Iwabuchi, Chisato;
Miyake, Noriko

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 105, n. 1, p. 1, doi. 10.1111/cge.14366
Publication type:: Article