Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 3

Results: 20

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 347, doi. 10.1111/cge.14550
By:
- Khan, Fati Ullah;
- Khan, Hammal;
- Ullah, Kifayat;
- Nawaz, Shoaib;
- Abdullah;
- Khan, Muhammad Javed;
- Ahmed, Sohail;
- Ilyas, Muhammad;
- Ali, Amjad;
- Ullah, Imran;
- Sohail, Aamir;
- Hussain, Shabir;
- Ahmad, Farooq;
- Faisal;
- Sufyan, Raza;
- Hayat, Amir;
- Hanif, Tooba;
- Bibi, Fatima;
- Hayat, Maria;
- Ullah, Rehmat
Publication type:
Article
Featured Cover.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 1, doi. 10.1111/cge.14607
By:
- Aggarwal, Shagun;
- Vineeth, Venugopal Satidevi;
- Padwal, Shrutika S.;
- Bhat, Sameer Ahmed;
- Singh, Arpita;
- Kulkarni, Aditya;
- Patil, Mallikarjun;
- Tallapaka, Karthik;
- Pasumarthi, Divya;
- Venkatapuram, Vijayasree;
- Thotakura, Pragna Lakshmi;
- Dalal, Ashwin;
- Bhandari, Rashna
Publication type:
Article
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 217, doi. 10.1111/cge.14566
By:
- Ben‐Chetrit, Eldad;
- Touitou, Isabelle
Publication type:
Article
SERPINA11 related novel serpinopathy – A perinatal lethal disorder.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 367, doi. 10.1111/cge.14564
By:
- Aggarwal, Shagun;
- Vineeth, Venugopal Satidevi;
- Padwal, Shrutika S.;
- Bhat, Sameer Ahmed;
- Singh, Arpita;
- Kulkarni, Aditya;
- Patil, Mallikarjun;
- Tallapaka, Karthik;
- Pasumarthi, Divya;
- Venkatapuram, Vijayasree;
- Thotakura, Pragna Lakshmi;
- Dalal, Ashwin;
- Bhandari, Rashna
Publication type:
Article
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 360, doi. 10.1111/cge.14549
By:
- Aagaard Nolting, Line;
- Holling, Tess;
- Nishimura, Gen;
- Ek, Jakob;
- Bak, Mads;
- Ljungberg, Merete;
- Kutsche, Kerstin;
- Hove, Hanne
Publication type:
Article
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 354, doi. 10.1111/cge.14548
By:
- Zhou, Wei;
- Wang, Chunli;
- Fu, Luhan;
- Shi, Wei;
- Zhang, Aihua;
- Jia, Zhanjun;
- Zhao, Xiaoke;
- Fu, Dalin;
- Zheng, Bixia
Publication type:
Article
Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5′ UTR of ANKRD26.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 315, doi. 10.1111/cge.14547
By:
- Dunstan‐Harrison, Caitlin;
- Morison, Ian M.;
- Ledgerwood, Elizabeth C.
Publication type:
Article
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 336, doi. 10.1111/cge.14546
By:
- Wang, Zhi;
- Sun, Yan;
- Zhang, Yiyin;
- Zhang, Yan;
- Zhang, Ran;
- Li, Changying;
- Liu, Xuyan;
- Pan, Fengjiao;
- Qiao, Dan;
- Shi, Xiaomeng;
- Zhang, Bingying;
- Xu, Ning;
- Bottillo, Irene;
- Shao, Leping
Publication type:
Article
Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 342, doi. 10.1111/cge.14545
By:
- Mehrjoo, Yosra;
- Campeau, Philippe M.;
- Al Abdi, Lama;
- Aldowaish, Abdullah;
- Abouyousef, Omar;
- Alkuraya, Fowzan S.;
- Codina‐Solà, Marta;
- Cueto‐González, Anna M.;
- Wurtele, Hugo
Publication type:
Article
High prevalence of copy number variations in the Japanese participants with suspected MODY.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 293, doi. 10.1111/cge.14544
By:
- Tanaka, Satoshi;
- Akagawa, Hiroyuki;
- Azuma, Kenkou;
- Higuchi, Sayaka;
- Ujiie, Atsushi;
- Hashimoto, Koshi;
- Iwasaki, Naoko
Publication type:
Article
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 321, doi. 10.1111/cge.14543
By:
- Tucker, Elena J.;
- Sharp, Michael F.;
- Lokchine, Anna;
- Bell, Katrina M.;
- Palmer, Catherine S.;
- Kline, Brianna L.;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Dulon, Jérôme;
- Stojanovski, Diana;
- Ayers, Katie L.;
- Touraine, Philippe;
- Crismani, Wayne;
- Jaillard, Sylvie;
- Sinclair, Andrew H.
Publication type:
Article
Outcomes of a universal germline screening program in a community urology practice.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 277, doi. 10.1111/cge.14541
By:
- Mendhiratta, Neil;
- Hauver, Herman;
- Hatton, Whitley;
- Ostrusky, Andrew;
- Sathe, Devika S.;
- Gurram, Sandeep;
- Rice, Patricia;
- Chalfin, Heather
Publication type:
Article
Genetic profile of Brazilian patients with LAMA2‐related dystrophies.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 305, doi. 10.1111/cge.14538
By:
- Camelo, Clara Gontijo;
- Moreno, Cristiane de Araujo Martins;
- Artilheiro, Mariana da Cunha;
- Fonseca, Alulin Tácio Quadros Monteiro;
- Gurgel Gianetti, Juliana;
- Barbosa, André Vinícius;
- Donis, Karina Carvalho;
- Saute, Jonas Alex Morales;
- Pessoa, André;
- Van der Linden, Hélio;
- Gonçalves, Ana Rita Alcântara;
- Kulikowski, Leslie Domenici;
- Kok, Fernando;
- Zanoteli, Edmar
Publication type:
Article
A fine‐scale genetic map of the Japanese population.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 284, doi. 10.1111/cge.14536
By:
- Takayama, Jun;
- Makino, Satoshi;
- Funayama, Takamitsu;
- Ueki, Masao;
- Narita, Akira;
- Murakami, Keiko;
- Orui, Masatsugu;
- Ishikuro, Mami;
- Obara, Taku;
- Kuriyama, Shinichi;
- Yamamoto, Masayuki;
- Tamiya, Gen
Publication type:
Article
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 267, doi. 10.1111/cge.14530
By:
- Yu, Jindan;
- Ling, Xiuxin;
- Chen, Lingli;
- Fang, Youhong;
- Lin, Haihua;
- Lou, Jingan;
- Ren, Yanqi;
- Chen, Jie
Publication type:
Article
Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 258, doi. 10.1111/cge.14529
By:
- Ozguc Caliskan, Busra;
- Uslu, Kubra;
- Sinim Kahraman, Neslihan;
- Erkilic, Kuddusi;
- Oner, Ayse;
- Dundar, Munis
Publication type:
Article
Simplified detection of genetic background admixture using artificial intelligence.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 247, doi. 10.1111/cge.14527
By:
- Pauly, Rini;
- Alexander Feltus, Frank
Publication type:
Article
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 224, doi. 10.1111/cge.14524
By:
- Vogel, Georg‐Friedrich;
- Podpeskar, Alexandra;
- Rieder, Dietmar;
- Salzer, Helin;
- Garczarczyk‐Asim, Dorota;
- Wang, Li;
- Abuduxikuer, Kuerbanjiang;
- Wang, Jian‐She;
- Scharrer, Anke;
- Faqeih, Eissa Ali;
- Aseeri, Ali T.;
- Vodopiutz, Julia;
- Heilos, Andreas;
- Pichler, Judith;
- Huber, Wolf‐Dietrich;
- Müller, Thomas;
- Knisely, A. S.;
- Janecke, Andreas R.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 215, doi. 10.1111/cge.14374
Publication type:
Article
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
By:
- Billes, Alexis;
- Pujalte, Mathilde;
- Jedraszak, Guillaume;
- Amsallem, Daniel;
- Boudry‐Labis, Elise;
- Boute, Odile;
- Bouquillon, Sonia;
- Brischoux‐Boucher, Elise;
- Callier, Patrick;
- Coutton, Charles;
- Denizet, Anne‐Laude Avice;
- Dieterich, Klaus;
- Kuentz, Paul;
- Lespinasse, James;
- Mazel, Benoît;
- Morin, Gilles;
- Amram, Florence;
- Pennamen, Perrine;
- Rio, Marlène;
- Piard, Juliette
Publication type:
Article