Author: "Al Balwi, M" / Journal: human genetics - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Al Balwi, M"' showing total 4 results

Start Over Author "Al Balwi, M" Journal human genetics

4 results on '"Al Balwi, M"'

1. Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1.

Author: Alabdulkareem I and Al Balwi M
Subjects: Codon genetics, Humans, Codon, Nonsense, Neurofibromatosis 1 genetics, Neurofibromin 1 genetics
Published: 2010

2. Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic.

Author: Al Balwi M, Ibrahim AA, and Abdulrahman AS
Subjects: Codon genetics, Humans, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive genetics, Edar Receptor genetics, Mutation, Missense
Published: 2010

3. Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha.

Author: Al Balwi M, Waffa E, and Ibrahim AA
Subjects: Codon genetics, Humans, Mutation, Missense, alpha-Mannosidase genetics, alpha-Mannosidosis genetics
Published: 2010

4. Gene symbol: LMX1B. Disease: Nail-Patella syndrome.

Author: Al Balwi M, Steinberger D, Al Abdulkareem I, and Al Abdi S
Subjects: Amino Acid Substitution, Homeodomain Proteins chemistry, Humans, LIM-Homeodomain Proteins, Molecular Sequence Data, Transcription Factors chemistry, Homeodomain Proteins genetics, Nail-Patella Syndrome genetics, Transcription Factors genetics
Published: 2008

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