scholarly journals Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

2017 ◽  
Vol 58 (4) ◽  
pp. 2218 ◽  
Author(s):  
Lin Li ◽  
Yabin Chen ◽  
Xiaodong Jiao ◽  
Chongfei Jin ◽  
Dan Jiang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Retinal Dystrophies ◽  
Pakistani Families

scholarly journals Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Muhammad Arif Nadeem Saqib ◽  
Konstantinos Nikopoulos ◽  
Ehsan Ullah ◽  
Falak Sher Khan ◽  
Jamila Iqbal ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Pakistani Families

Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

2019 ◽  
Vol 58 (8) ◽  
pp. 946-952 ◽  
Author(s):  
Ghulam M. Khan ◽  
Noor Hassan ◽  
Niamatullah Khan ◽  
Muhammad Humayun ◽  
Kafaitullah Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Biallelic Mutations ◽  
Pakistani Families

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

2009 ◽  
Vol 25 (6) ◽  
pp. 715-720 ◽  
Author(s):  
Rizwana Kousar ◽  
Hira Nawaz ◽  
Maryam Khurshid ◽  
Ghazanfer Ali ◽  
Saad Ullah Khan ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

scholarly journals Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Ophthalmology ◽  
2013 ◽  
Vol 120 (11) ◽  
pp. 2332-2337 ◽  
Author(s):  
Rosa Riveiro-Alvarez ◽  
Miguel-Angel Lopez-Martinez ◽  
Jana Zernant ◽  
Jana Aguirre-Lamban ◽  
Diego Cantalapiedra ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Retinal Dystrophies

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene

Neurogenetics ◽  
2006 ◽  
Vol 7 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Asma Gul ◽  
Muhammad Jawad Hassan ◽  
Saqib Mahmood ◽  
Wenje Chen ◽  
Safa Rahmani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Primary Microcephaly ◽  
Genetic Studies ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families
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