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Works matching IS 13646745 AND DT 2023 AND VI 24 AND IP 1

Results: 6

1

Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 43, doi. 10.1007/s10048-022-00707-3

By:

Nashi, ‬Saraswati;
Polavarapu, Kiran;
Bardhan, Mainak;
Anjanappa, Ram Murthy;
Preethish-Kumar, Veeramani;
Vengalil, Seena;
Padmanabha, Hansashree;
Geetha, Thenral S.;
Prathyusha, P. V.;
Ramprasad, Vedam;
Joshi, Aditi;
Chawla, Tanushree;
Unnikrishnan, Gopikirshnan;
Sharma, Pooja;
Huddar, Akshata;
Uppilli, Bharathram;
Thomas, Abel;
Baskar, Dipti;
Mathew, Susi;
Menon, Deepak

Publication type:

Article

2

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 1, doi. 10.1007/s10048-022-00704-6

By:

Juhosová, M.;
Chandoga, J.;
Cisárik, F.;
Dallemule, S.;
Ďurina, P.;
Jarásková, D.;
Jungová, P.;
Kantarská, D.;
Kvasnicová, M.;
Mistrík, M.;
Pastoráková, A.;
Petrovič, R.;
Valachová, A.;
Zelinková, H.;
Barošová, J.;
Böhmer, D.;
Štofko, J.

Publication type:

Article

3

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 17, doi. 10.1007/s10048-022-00703-7

By:

Refeat, Miral M.;
Naggar, Walaa El;
Saied, Mostafa M. El;
Kilany, Ayman

Publication type:

Article

4

A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 55, doi. 10.1007/s10048-022-00701-9

By:

Rafeeq, Misbahuddin M.;
Umair, Muhammad;
Bilal, Muhammad;
Habib, Alaa Hamed;
Waqas, Ahmed;
Sain, Ziaullah M.;
Alam, Mohammad Zubair;
Ali, Raja Hussain

Publication type:

Article

5

Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 61, doi. 10.1007/s10048-022-00706-4

By:

Gilboa, Tal;
Elefant, Naama;
Meiner, Vardiella;
Hacohen, Nuphar

Publication type:

Article

6

Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior.

Published in:

Neurogenetics, 2023, v. 24, n. 1, p. 29, doi. 10.1007/s10048-022-00705-5

By:

Falker-Gieske, Clemens;
Bennewitz, Jörn;
Tetens, Jens

Publication type:

Article