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Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 3

Results: 6

1

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 203, doi. 10.1007/s10048-022-00692-7

By:

Ullah, Asmat;
Krishin, Jai;
Haider, Nighat;
Aurangzeb, Brekhna;
Abdullah;
Suleman, Sufyan;
Ahmad, Wasim;
Hansen, Torben;
Basit, Sulman

Publication type:

Article

2

Genetic analysis of 18 families with tuberous sclerosis complex.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 223, doi. 10.1007/s10048-022-00694-5

By:

Yin, Kaili;
Lin, Nan;
Lu, Qiang;
Jin, Liri;
Huang, Yan;
Zhou, Xiangqin;
Xu, Kaifeng;
Liu, Qing;
Zhang, Xue

Publication type:

Article

3

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 213, doi. 10.1007/s10048-022-00693-6

By:

Karakaya, Taner;
Turkyilmaz, Ayberk;
Sager, Gunes;
Inan, Rahsan;
Yarali, Oguzhan;
Cebi, Alper Han;
Akin, Yasemin

Publication type:

Article

4

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 167, doi. 10.1007/s10048-022-00688-3

By:

Teive, Hélio A. G.;
Camargo, Carlos Henrique F.;
Pereira, Eduardo R.;
Coutinho, Léo;
Munhoz, Renato P.

Publication type:

Article

5

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 179, doi. 10.1007/s10048-022-00691-8

By:

Zhu, Dengna;
Wang, Mingmei;
Xu, Yiran;
Zhang, Jiamei;
Yang, Fan;
Yang, Zuozhen

Publication type:

Article

6

Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

Published in:

Neurogenetics, 2022, v. 23, n. 3, p. 187, doi. 10.1007/s10048-022-00690-9

By:

Bardhan, Mainak;
Anjanappa, Ram Murthy;
Polavarapu, Kiran;
Preethish-Kumar, Veeramani;
Vengalil, Seena;
Nashi, Saraswati;
Sanga, Shamita;
Padmanabh, Hansashree;
Valasani, Ravi Kiran;
Nishadham, Vikas;
Keerthipriya, Muddasu;
Geetha, Thenral S.;
Ramprasad, Vedam;
Arunachal, Gautham;
Thomas, Priya Treesa;
Acharya, Moulinath;
Nalini, Atchayaram

Publication type:

Article