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1.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb)
; 2023: 9999660, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37829154
2.
A report of whole-genome sequencing in neurologic Wilson's disease.
Neurol India
; 65(3): 629-631, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28488633
3.
Ethnobotanical and Biochemical Study of Berberis lycium Royle Collected from Different Areas of Azad Jammu and Kashmir.
Evid Based Complement Alternat Med
; 2021: 9916305, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34616483
4.
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
NPJ Genom Med
; 6(1): 2, 2021 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33402667
5.
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
Sci Rep
; 9(1): 13576, 2019 09 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-31537871
6.
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.
Int J Dermatol
; 58(8): 946-952, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31077348
7.
Further evidence for the association of CYP2D6*4 gene polymorphism with Parkinson's disease: a case control study.
Genes Environ
; 39: 18, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28680508
8.
Novel Frameshift Mutations in XPC Gene Underlie Xeroderma Pigmentosum in Pakistani Families.
Indian J Dermatol
; 66(2): 220-222, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34188291
9.
Highly efficient zinc-finger nuclease-mediated disruption of an eGFP transgene in keratinocyte stem cells without impairment of stem cell properties.
Stem Cell Rev Rep
; 8(2): 426-34, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21874280
10.
Versatile and efficient genome editing in human cells by combining zinc-finger nucleases with adeno-associated viral vectors.
Hum Gene Ther
; 23(3): 321-9, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21980922
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