Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 2

Results: 14

Molecular genetics of inherited retinal degenerations in Icelandic patients.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 156, doi. 10.1111/cge.13967
By:
- Thorsteinsson, Daniel A.;
- Stefansdottir, Vigdis;
- Eysteinsson, Thor;
- Thorisdottir, Sigridur;
- Jonsson, Jon J.
Publication type:
Article
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 201, doi. 10.1111/cge.13970
By:
- Majethia, Purvi;
- Somashekar, Puneeth Hirivate;
- Hebbar, Malavika;
- Kadavigere, Rajagopal;
- Praveen, Balike Krishna;
- Girisha, Katta Mohan;
- Shukla, Anju
Publication type:
Article
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 168, doi. 10.1111/cge.13969
By:
- McKenzie, Fiona;
- Mina, Kym;
- Callewaert, Bert;
- Beyens, Aude;
- Dickinson, Jan E.;
- Jevon, Gareth;
- Papadimitriou, John;
- Diness, Birgitte Rode;
- Steensberg, Jesper Norman;
- Ek, Jakob;
- Baynam, Gareth
Publication type:
Article
The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 132, doi. 10.1111/cge.13968
By:
- Berkman, Amy M.;
- Hildebrandt, Michelle A. T.;
- Landstrom, Andrew P.
Publication type:
Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
By:
- Panneerselvam, Sugi;
- Wang, Julia;
- Zhu, Wenmiao;
- Dai, Hongzheng;
- Pappas, John G.;
- Rabin, Rachel;
- Low, Karen J.;
- Rosenfeld, Jill A.;
- Emrick, Lisa;
- Xiao, Rui;
- Xia, Fan;
- Yang, Yaping;
- Eng, Christine M.;
- Anderson, Anne;
- Chau, Vann;
- Soler‐Alfonso, Claudia;
- Streff, Haley;
- Lalani, Seema R.;
- Mercimek‐Andrews, Saadet;
- Bi, Weimin
Publication type:
Article
ANKRD11 variants: KBG syndrome and beyond.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
By:
- Parenti, Ilaria;
- Mallozzi, Mark B.;
- Hüning, Irina;
- Gervasini, Cristina;
- Kuechler, Alma;
- Agolini, Emanuele;
- Albrecht, Beate;
- Baquero‐Montoya, Carolina;
- Bohring, Axel;
- Bramswig, Nuria C.;
- Busche, Andreas;
- Dalski, Andreas;
- Guo, Yiran;
- Hanker, Britta;
- Hellenbroich, Yorck;
- Horn, Denise;
- Innes, A. Micheil;
- Leoni, Chiara;
- Li, Yun R.;
- Lynch, Sally Ann
Publication type:
Article
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 219, doi. 10.1111/cge.13976
By:
- Zhang, Li;
- Pan, Lijuan;
- Teng, Yanling;
- Liang, Desheng;
- Li, Zhuo;
- Wu, Lingqian
Publication type:
Article
Nonsense‐mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock‐in mice.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 213, doi. 10.1111/cge.13975
By:
- Xie, Zhanli;
- Jiang, Jiang;
- Cao, Lijuan;
- Jiang, Miao;
- Yang, Fei;
- Ma, Zhenni;
- Wang, Zhaoyue;
- Ruan, Changgeng;
- Liu, Hong;
- Zhou, Lu
Publication type:
Article
A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 234, doi. 10.1111/cge.13974
By:
- Puma, Angela;
- Ezaru, Andra;
- Cavalli, Michele;
- Villa, Luisa;
- Torre, Federico;
- Biancalana, Valérie;
- Levade, Thierry;
- Grecu, Nicolae;
- Sacconi, Sabrina
Publication type:
Article
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 176, doi. 10.1111/cge.13973
By:
- Omer, Salma;
- Jin, Sheng Chih;
- Koumangoye, Rainelli;
- Robert, Stephanie M.;
- Duran, Daniel;
- Nelson‐Williams, Carol;
- Huttner, Anita;
- DiLuna, Michael;
- Kahle, Kristopher T.;
- Delpire, Eric
Publication type:
Article
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972
By:
- El Chehadeh, Salima;
- Legrand, Anne;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Billon, Clarisse;
- Adham, Salma;
- Jeunemaître, Xavier;
- Jaussaud, Roland;
- Muller, Jean;
- Schaefer, Elise;
- Benistan, Karelle;
- Gaertner, Sébastien;
- Bloch‐Zupan, Agnès;
- Courval, Aymeric;
- Manière, Marie‐Cécile;
- Petit, Catherine;
- Bursztejn, Anne‐Claire;
- Bal, Laurence;
- Reyre, Anthony;
- Chammas, Agathe
Publication type:
Article
Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 119, doi. 10.1111/cge.13966
By:
- Makhnoon, Sukh;
- Bednar, Erica M.;
- Krause, Kate J.;
- Peterson, Susan K.;
- Lopez‐Olivo, Maria A.
Publication type:
Article
Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 144, doi. 10.1111/cge.13965
By:
- Li, Na;
- Zhou, Pei;
- Yang, Miaomiao;
- Fang, Xiang;
- Krämer, Nadine;
- Mughal, Tauqeer Ahmed;
- Abbasi, Ansar A.;
- Yang, Ye;
- Kaindl, Angela M.;
- Hu, Hao
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 117, doi. 10.1111/cge.13784
Publication type:
Article