Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 4

Results: 16

A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 480, doi. 10.1111/cge.14689

By:

Johannesen, Katrine M.;
Karstensen, John Gásdal;
Rasmussen, Andreas Ørslev;
Scott, Emma Adine Hoxer;
Birkedal, Ulf;
Hansen, Thomas v. O.;
Steenholdt, Casper;
Jelsig, Anne Marie

Publication type:

Article

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 477, doi. 10.1111/cge.14680

By:

Almontashiri, Naif A. M.;
Mushiba, Aziza;
Alruqi, Haya;
Alharby, Essa;
Hashmi, Jamil Amjad

Publication type:

Article

Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 425, doi. 10.1111/cge.14679

By:

Massier, Marie;
de Groote, Pascal;
Donal, Erwan;
Magnin‐Poull, Isabelle;
Coubes, Christine;
Le Guillou Horn, Xavier;
Rooryck, Caroline;
Réant, Patricia;
Troadec, Yann;
Bréhin, Anne‐Claire;
Proukhnitzky, Julie;
Gandjbakhch, Estelle;
Charron, Philippe;
Richard, Pascale;
Ader, Flavie

Publication type:

Article

Loss‐of‐Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 413, doi. 10.1111/cge.14678

By:

Chen, Shanshan;
Xu, Juan;
Xiao, Yongtao;
Cai, Hui;
Zhou, Jie;
Cai, Wei;
Wang, Ying

Publication type:

Article

SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 402, doi. 10.1111/cge.14677

By:

Qian, Guanhua;
Yang, Nanyan;
Deng, Fang;
Zhang, Mingze;
Pan, Xin;
Tan, Bo;
Liu, Li;
Zhang, Xu;
Yao, Hong;
Dong, Xiaojing

Publication type:

Article

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 475, doi. 10.1111/cge.14674

By:

Ayaz, Akif;
Sager, Safiye Güneş;
Gökşen, Ahmet Sercan;
Kök, Kıvanç;
Caliskan, Emine;
Alomari, Omar

Publication type:

Article

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 390, doi. 10.1111/cge.14672

By:

Altunoglu, Umut;
Turgut, Gozde Tutku;
Özturan, Esin Karakılıç;
Kalaycı, Tuğba;
Kaya, Mert;
Toksoy, Güven;
Baş, Firdevs;
Kayserili, Hülya;
Darendeliler, Feyza

Publication type:

Article

Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 469, doi. 10.1111/cge.14670

By:

Khandakar, Binny;
Lacy, Jill;
Gibson, Joanna A.

Publication type:

Article

Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 373, doi. 10.1111/cge.14669

By:

Turkyilmaz, Ayberk;
Sager, Safiye Gunes;
Terali, Kerem;
Kart, Pinar Ozkan;
Kamasak, Tulay;
Ayaz, Akif;
Cebi, Alper Han;
Cansu, Ali

Publication type:

Article

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 463, doi. 10.1111/cge.14668

By:

Khan, Inam Ullah;
Abdullah;
Khan, Hammal;
Ali, Amjad;
Sani, Ayesha;
Khan, Fati Ullah;
Ullah, Muhammad Tahir;
Ahmed, Sohail;
Liaqat, Romana;
Haider, Awais;
Ullah, Kifayat;
Ullah, Naseeb;
Khan, Muhammad Sajid;
Hussain, Shabir;
Ullah, Imran;
Ullah, Asmat;
Anees, Mariam;
Makitie, Outi;
Ahmad, Wasim

Publication type:

Article

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 458, doi. 10.1111/cge.14667

By:

Ghasemi, Reza;
Corliss, Meagan M.;
Bowling, Kevin M.;
Krysiak, Kilannin;
Walker, Jason;
Dickson, Alexa M.;
Schroeder, Molly C.;
Parikh, Bijal A.;
Neidich, Julie A.;
Polonis, Katarzyna;
Cao, Yang

Publication type:

Article

Split Hand‐Foot Malformations—Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 453, doi. 10.1111/cge.14666

By:

Cás, Eduardo Da;
Ceroni, José Ricardo Magliocco;
Yamamoto, Guilherme Lopes;
Castro, Matheus Augusto Araújo;
Bisneto, Edgard França;
Jorge, Alexander Augusto de Lima;
Filho, Joao Bosco Oliveira;
Kim, Chong Ae;
Krepischi, Ana Cristina Vitorino;
Bertola, Débora Romeo

Publication type:

Article

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 446, doi. 10.1111/cge.14664

By:

Ning, Haiping;
Liang, Cuili;
Mei, Huifen;
Yuan, Dejian;
Wei, Xiaobao;
Huang, Xiao;
Tan, Dongdong;
Tan, Jianqiang

Publication type:

Article

Rare Causes and Differential Diagnosis in Patients With Silver‐Russell Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 441, doi. 10.1111/cge.14659

By:

Braga, Barbara Leitao;
da Cunha Scalco, Renata;
Homma, Thais Kataoka;
Freire, Bruna Lucheze;
Cellin, Laurana De Polli;
Canton, Ana Pinheiro Machado;
Lerario, Antônio Marcondes;
de Assis Funari, Mariana Ferreira;
de Souza, Vinicius;
Bertola, Debora Romeo;
Malaquias, Alexsandra Christianne;
Mendonca, Berenice Bilharinho;
de Lima Jorge, Alexander Augusto

Publication type:

Article

Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal).

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 434, doi. 10.1111/cge.14656

By:

Duarte, Fabiana;
Oliveira, Luís;
Baixia, Márcia;
Mota‐Vieira, Luísa;
Machado, Carina

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 107, n. 4, p. 371, doi. 10.1111/cge.14554
Publication type:: Article