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Works matching IS 00034800 AND DT 2021 AND VI 85 AND IP 5

Results: 7

1

Attitude toward personal genomics: A nation‐wide survey of public and professionals in Pakistan.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 196, doi. 10.1111/ahg.12419

By:

Ilyas, Muhammad;
Malik, Saima;
Alam, Mukhtar;
Mahmood, Aamir;
Irfan, Muhammad;
Shah, Muttahid;
Rahman, Atiqur;
Ahmad, Habib

Publication type:

Article

2

Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 178, doi. 10.1111/ahg.12429

By:

Saat, Hanife;
Sahin, Ibrahim

Publication type:

Article

3

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 147, doi. 10.1111/ahg.12425

By:

Muzammal, Muhammad;
Ahmad, Safeer;
Ali, Muhammad Zeeshan;
Khan, Muzammil Ahmad

Publication type:

Article

4

An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 166, doi. 10.1111/ahg.12424

By:

Koganebuchi, Kae;
Sato, Kimitoshi;
Fujii, Kiyotaka;
Kumabe, Toshihiro;
Haneji, Kuniaki;
Toma, Takashi;
Ishida, Hajime;
Joh, Keiichiro;
Soejima, Hidenobu;
Mano, Shuhei;
Ogawa, Motoyuki;
Oota, Hiroki

Publication type:

Article

5

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 155, doi. 10.1111/ahg.12422

By:

Güneş, Nilay;
Yeşil, Gözde;
Geyik, Filiz;
Kasap, Büşra;
Celkan, Tiraje;
Kebudi, Rejin;
Tüysüz, Beyhan

Publication type:

Article

6

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 186, doi. 10.1111/ahg.12437

By:

Koko, Mahmoud;
Yahia, Ashraf;
Elsayed, Liena E.;
Hamed, Ahlam A.;
Mohammed, Inaam N.;
Elseed, Maha A.;
Hamad, Muddathir H. A.;
Babai, Arwa M.;
Siddig, Rayan A.;
Abd Allah, Amal S. I.;
Mohamed, Mayada;
EL‐Amin, Melka;
Esteves, Typhaine;
Altmüller, Janine;
Toliat, Mohammad Reza;
Thiele, Holger;
Nürnberg, Peter;
Salih, Mustafa A.;
Ahmed, Ammar E.;
Lerche, Holger

Publication type:

Article

7

Issue Information.

Published in:: Annals of Human Genetics, 2021, v. 85, n. 5, p. i, doi. 10.1111/ahg.12394
Publication type:: Article