Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 1

Results: 16

Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 117, doi. 10.1111/cge.14639

By:

Pan, Yuncheng;
Mo, Jitong;
Ren, Shuting;
Zhang, Yifei;
Zhang, Feng;
Zhang, Xiaojin;
Wu, Yanhua

Publication type:

Article

PERCC1‐Related Congenital Enteropathy.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 115, doi. 10.1111/cge.14638

By:

Kerle, Lena S.;
Karlsland Åkeson, Pia;
Müller, Thomas;
Janecke, Andreas R.

Publication type:

Article

Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 13, doi. 10.1111/cge.14637

By:

Rosenblum, Jessica;
Meuwissen, Marije;
Jansen, Anna C.;
Oegema, Renske;
Reddy, Nihaal;
Mankad, Kshitij;
Sudhakar, Sniya

Publication type:

Article

Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 113, doi. 10.1111/cge.14630

By:

da Silva Franco, José Francisco;
Neves, Raquel Leão;
Menezes, Alef Nascimento;
Nogueira, Beatriz Ribeiro;
Gomes, Caio Perez;
Pesquero, João Bosco

Publication type:

Article

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 98, doi. 10.1111/cge.14627

By:

Khan, Afrasiab;
Muhammad, Anees;
Ullah, Hidayat;
Ambreen, Hina;
Ullah, Abeed;
May, Patrick;
Lerche, Holger;
Haack, Tobias B.;
Rehman, Shoaib ur;
Kegele, Josua

Publication type:

Article

RNU4‐2‐Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 104, doi. 10.1111/cge.14628

By:

Rosenblum, Jessica;
Beysen, Diane;
Jansen, Anna C.;
De Rademaeker, Marjan;
Reyniers, Edwin;
Janssens, Katrien;
Meuwissen, Marije

Publication type:

Article

Review of susceptibility genes in developmental dysplasia of the hip: A comprehensive examination of candidate genes and pathways.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 3, doi. 10.1111/cge.14618

By:

Wang, Wenla;
Zhuang, Wei;
Zeng, Wenxiang;
Feng, Yuqi;
Zhang, Zhaowei

Publication type:

Article

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 91, doi. 10.1111/cge.14622

By:

Stehr, Antonia M.;
Lenberg, Jerica;
Friedman, Jennifer;
Dobbelaere, Dries;
Imbard, Apolline;
Levy, Jonathan;
Donoghue, Sarah;
Derive, Nicolas;
Stoeva, Radka;
Gueguen, Paul;
Zech, Michael

Publication type:

Article

The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 67, doi. 10.1111/cge.14620

By:

Chen, Penghui;
Hou, Shule;
Li, Gen;
Lin, Yuzhe;
Lu, Jiawen;
Song, Lei;
Li, Geng‐Lin;
Pang, Xiuhong;
Wu, Hao;
Yang, Tao

Publication type:

Article

Knowledge and perceptions about fragile X syndrome and fragile X‐premutation‐associated conditions among medical doctors in Nigeria.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 56, doi. 10.1111/cge.14619

By:

Mbachu, Chioma N. P.;
Hagerman, Randi;
Eseigbe, Edwin;
Odita, Amalachukwu;
Mbachu, Ikechukwu;
Ilikanu, Samuel;
Akowundu, Kasarachi;
Ndukwu, Chizalu;
Echezona, Malachy;
Okereke, Onyedikachi;
Echendu, Sylvia;
Udigwe, Ifeoma

Publication type:

Article

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 78, doi. 10.1111/cge.14616

By:

Gregersen, Pernille Axél;
Hammarsjö, Anna;
Graversen, Lise;
Brix, Nis;
Lindelöf, Hillevi;
Jensen, Uffe Birk;
Farholt, Stense;
Rubak, Sune;
Bjerre, Jesper;
Piticchio, Serena G.;
Terkelsen, Thorkild;
Nishimura, Gen;
Hellfritzsch, Michel Bach;
Grigelioniene, Giedre

Publication type:

Article

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 44, doi. 10.1111/cge.14614

By:

Bauwens, Miriam;
De Man, Vincent;
Audo, Isabelle;
Balikova, Irina;
Zein, Wadih M.;
Smirnov, Vasily;
Held, Sebastian;
Vermeer, Sascha;
Loos, Elke;
Jacob, Julie;
Casteels, Ingele;
Désir, Julie;
Depasse, Fanny;
Van de Sompele, Stijn;
Van Heetvelde, Mattias;
De Bruyne, Marieke;
Andrieu, Camille;
Condroyer, Christel;
Antonio, Aline;
Hufnagel, Robert

Publication type:

Article

Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 83, doi. 10.1111/cge.14621

By:

Nosrati, Mohammad Sadegh Shams;
Doustmohammadi, Alireza;
Severino, Mariasavina;
Romano, Ferruccio;
Zafari, Mahdi;
Nemati, Amir Hesam;
Velmans, Clara;
Netzer, Christian;
Breuer, Jonas;
Broekaert, Ilse Julia;
Joachim, Alexander;
Almasri, Nihad;
Kruer, Michael C.;
Skidmore, Peter;
Bisarad, Pritha;
Hoque, Jumana;
Bakhtiari, Somayeh;
Torella, Annalaura;
Nigro, Vincenzo;
Buffelli, Francesca

Publication type:

Article

Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 34, doi. 10.1111/cge.14612

By:

Sudnawa, Khemika K.;
Pini, Nicolò;
Li, Wenxing;
Kanner, Cara H.;
Ryu, Joseph;
Calamia, Sean;
Bain, Jennifer M.;
Goldman, Sylvie;
Montes, Jacqueline;
Shen, Yufeng;
Chung, Wendy K.

Publication type:

Article

Active spread of β‐thalassemia beyond the thalassemia belt: A study on a Russian population.

Published in:

Clinical Genetics, 2025, v. 107, n. 1, p. 23, doi. 10.1111/cge.14606

By:

Shchemeleva, Ekaterina;
Salomashkina, Valentina V.;
Selivanova, Daria;
Tsvetaeva, Nina;
Melikyan, Anait;
Doronina, Liliya;
Surin, Vadim L.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 107, n. 1, p. 1, doi. 10.1111/cge.14551
Publication type:: Article