Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene.
- Published in:
- Neurogenetics, 2006, v. 7, n. 2, p. 105, doi. 10.1007/s10048-006-0042-4
- By:
- Publication type:
- Article
Works matching AU Rafiq, Muhammad Arshad
Results: 15
1
2
Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
- Published in:
- Acta Neuropsychiatrica, 2015, v. 27, n. 1, p. 38, doi. 10.1017/neu.2014.37
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- Publication type:
- Article
3
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5697, doi. 10.1093/hmg/ddv286
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- Publication type:
- Article
4
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069
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- Publication type:
- Article
5
ARG1 SINGLE NUCLEOTIDE POLYMORPHISMS RS2781666 AND RS2781665 CONFER RISK OF TYPE 2 DIABETES MELLITUS.
- Published in:
- EXCLI Journal, 2018, v. 17, p. 847, doi. 10.17179/excli2018-1178
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- Publication type:
- Article
6
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 699, doi. 10.1002/ajmg.a.38087
- By:
- Publication type:
- Article
7
A novel autosomal recessive non-syndromic hearing impairment locus ( DFNB47) maps to chromosome 2p25.1-p24.3.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 605, doi. 10.1007/s00439-005-0079-8
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- Publication type:
- Article
8
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
- Published in:
- Archives of Dermatological Research, 2006, v. 298, n. 3, p. 135, doi. 10.1007/s00403-006-0671-3
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- Publication type:
- Article
9
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
10
A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 338, doi. 10.1111/j.0022-202X.2004.23594.x
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- Publication type:
- Article
11
A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis.
- Published in:
- 2004
- By:
- Publication type:
- Letter
12
ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case-Control Study.
- Published in:
- DNA & Cell Biology, 2018, v. 37, n. 7, p. 609, doi. 10.1089/dna.2018.4222
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- Publication type:
- Article
13
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
- Published in:
- International Journal of Neuroscience, 2024, v. 134, n. 6, p. 665, doi. 10.1080/00207454.2022.2140428
- By:
- Publication type:
- Article
14
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0183-0
- By:
- Publication type:
- Article
15
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 56, doi. 10.1186/1471-2350-12-56
- By:
- Publication type:
- Article