Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 3

Results: 14

Disorders of histone methylation: Molecular basis and clinical syndromes.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 169, doi. 10.1111/cge.14181

By:

Al Ojaimi, Mode;
Banimortada, Bashar J.;
Othman, Amna;
Riedhammer, Korbinian M.;
Almannai, Mohammed;
El‐Hattab, Ayman W.

Publication type:

Article

Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 248, doi. 10.1111/cge.14179

By:

Buhl, Nicole;
Pfister, Eva‐Doreen;
Bohne, Jens;
Baumann, Ulrich;
Hartleben, Björn;
Schlegelberger, Brigitte;
Illig, Thomas;
Skawran, Britta;
Stalke, Amelie

Publication type:

Article

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 246, doi. 10.1111/cge.14178

By:

Lin, Yunting;
Zhang, Wen;
Li, Duan;
Chen, Xiaodan;
Lu, Zhikun;
Li, Xiaojing;
Li, Xiuzhen

Publication type:

Article

Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 201, doi. 10.1111/cge.14177

By:

Yilmaz Gulec, Elif;
Turgut, Gozde Tutku;
Gezdirici, Alper;
Karaman, Volkan;
Ozturk, Fatma Nihal;
Avci, Sahin;
Kalayci, Tugba;
Senturk, Leyli;
Ayaz, Akif;
Kayserili, Hulya;
Uyguner, Zehra Oya;
Altunoğlu, Umut

Publication type:

Article

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 191, doi. 10.1111/cge.14176

By:

Sølyst, Sofus;
Oksjoki, Riina;
Farholt, Stense;
Nielsen, Dorte Guldbrand;
Christensen, Alex H.;
Fagerberg, Christina R.;
Risom, Lotte;
Gregersen, Pernille Axél;
Christensen, Maria Bejerholm;
Rasmussen, Torsten Bloch;
Diness, Birgitte Rode

Publication type:

Article

Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 244, doi. 10.1111/cge.14175

By:

Seeman, Pavel;
Čejnová, Vlasta;
Černá, Šárka;
Rennerová, Ladislava;
Trková, Marie;
Kofer, Josef;
Laštůvková, Jana

Publication type:

Article

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 239, doi. 10.1111/cge.14174

By:

Schmidt, Julia;
Bremmer, Felix;
Brockmann, Knut;
Kaulfuß, Silke;
Wollnik, Bernd

Publication type:

Article

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 182, doi. 10.1111/cge.14173

By:

Gerber, Céline B.;
Fliedner, Anna;
Bartsch, Oliver;
Berland, Siren;
Dewenter, Malin;
Haug, Marte;
Hayes, Ian;
Marin‐Reina, Purificacion;
Mark, Paul R.;
Martinez‐Castellano, Francisco;
Maystadt, Isabelle;
Karadurmus, Deniz;
Steindl, Katharina;
Wiesener, Antje;
Zweier, Markus;
Sticht, Heinrich;
Zweier, Christiane

Publication type:

Article

Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 242, doi. 10.1111/cge.14172

By:

Kuptanon, Chulaluck;
Thamkunanon, Verasak;
Srichomthong, Chalurmpon;
Theerapanon, Thanakorn;
Suphapeetiporn, Kanya;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling.

Published in:: Clinical Genetics, 2022, v. 102, n. 3, p. 234, doi. 10.1111/cge.14171
Publication type:: Article

Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 228, doi. 10.1111/cge.14168

By:

Zhang, Xinyue;
Pan, Xiaohui;
Wan, Qin;
Ma, Jinfang;
Zhang, Fang;
Zhang, Yuwei;
Lv, Qingguo;
Shen, Sumin;
Tong, Nanwei

Publication type:

Article

Biallelic variants in PAX3 cause Klein syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 223, doi. 10.1111/cge.14167

By:

Salah, Somaya;
Meiner, Vardiella;
Abumayaleh, Abdelrazzaq;
Asafra, Ali;
Al‐Sharif, Taher;
Al‐Fallah, Orwa;
Hasasneh, Belal;
Zlotogora, Joël

Publication type:

Article

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 218, doi. 10.1111/cge.14166

By:

Türkyılmaz, Ayberk;
Sağer, Safiye Güneş;
Günbey, Hediye Pınar;
Akın, Yasemin

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 3, p. 167, doi. 10.1111/cge.13989
Publication type:: Article