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
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
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
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
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
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
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
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
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
Issue Information.
Published in:
Clinical Genetics, 2025, v. 107, n. 1, p. 1, doi. 10.1111/cge.14551
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