Works matching IS 00034800 AND DT 2025 AND VI 89 AND IP 2/3

Results: 10

Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 126, doi. 10.1111/ahg.12595

By:

Ngiwsara, Lukana;
Dhachpramuk, Dhachdanai;
Sawangareetrakul, Phannee;
Vongphit, Sherry;
Pacharn, Punchama;
Svasti, Jisnuson;
Vatanavicharn, Nithiwat

Publication type:

Article

Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre‐Lingual Hearing Loss From South India.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 114, doi. 10.1111/ahg.12593

By:

Krishnamoorthy, Mathuravalli;
Jayasankaran, Chandru;
Lakshmi, Sorna;
Sarvani, Chodisetty;
Margret, Jeffrey Justin;
Mahalingam, Subathra;
Amritkumar, Pavithra;
Subramanyam, Paridhy Vanniya;
S, Sarrath Rathnaraajan;
Srisailapathy, C. R. Srikumari

Publication type:

Article

Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 106, doi. 10.1111/ahg.12592

By:

Akcan, Mehmet Berkay;
Ceylan Köse, Canan;
Müge Çelik, Kübra;
Tekin, Koray;
Kaya, Derya;
Sılan, Fatma

Publication type:

Article

Issue Information.

Published in:: Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 1, doi. 10.1111/ahg.12591
Publication type:: Article

RETRACTION: Investigating the Effectiveness of Forensic Genetics and Population Genetic Diversity Using a Multi‐InDel System in Chinese Hezhou and Southern Shaanxi Han Populations.

Published in:: Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 132, doi. 10.1111/ahg.12590
Publication type:: Article

Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 96, doi. 10.1111/ahg.12588

By:

Abu‐Almfalfal, Razan Issam;
Jarrar, Yazun Bashir;
Gharaibeh, Munir

Publication type:

Article

Identifying a Genetic Link Between Lung Function and Psoriasis.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 89, doi. 10.1111/ahg.12587

By:

Tanimura, Kazuya;
Aldrich, Melinda C.;
Jaworski, James;
Xing, Jinchuan;
Okawa, Satoshi;
Chandra, Divay;
Nouraie, Seyed M.;
Nyunoya, Toru

Publication type:

Article

Secondary findings in 443 exome sequencing data.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 67, doi. 10.1111/ahg.12586

By:

Branković, Marija;
Han, Heonjong;
Janković, Milena;
Marjanović, Ana;
Andrejic, Nikola;
Gunjić, Ilija;
Virić, Vanja;
Palibrk, Aleksa;
Lee, Hane;
Peric, Stojan

Publication type:

Article

Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. 77, doi. 10.1111/ahg.12585

By:

Kaur, Namanpreet;
Somashekar, Puneeth H.;
Deepha, Sekar;
Govindaraj, Periyasamy;
Shukla, Anju;
Patil, Siddaramappa J.

Publication type:

Article

RETRACTED: Investigating the effectiveness of forensic genetics and population genetic diversity using a multi‐InDel system in Chinese Hezhou and Southern Shaanxi Han populations.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 2/3, p. e1, doi. 10.1111/ahg.12553

By:

Wang, Xi;
Lan, Qiong;
Lin, Yifeng;
Yuan, Xi;
Mei, Shuyan;
Lei, Fanzhang;
Dong, Bonan;
Zhao, Ming;
Cai, Meiming;
Shen, Chunmei;
Zhu, Bofeng

Publication type:

Article