Literature DB >> 29232001

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Asmat Ullah1, Maryam Khalid2, Muhammad Umair1, Sher Alam Khan3, Muhammad Bilal1, Saadullah Khan3, Wasim Ahmad1.   

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Year:  2017        PMID： 29232001     DOI： 10.1111/cga.12264

Source DB:  PubMed          Journal:  Congenit Anom (Kyoto)        ISSN： 0914-3505            Impact factor:   1.409


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  2 in total

1.  Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Authors:  Muhammad Umair; Naveed Wasif; Alia M Albalawi; Khushnooda Ramzan; Majid Alfadhel; Wasim Ahmad; Sulman Basit
Journal:  Mol Genet Genomic Med       Date:  2019-05-21       Impact factor: 2.183

2.  Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.

Authors:  Robina Khan Niazi; Anette Prior Gjesing; Mette Hollensted; Christian Theil Have; Dmitrii Borisevich; Niels Grarup; Oluf Pedersen; Asmat Ullah; Gulbin Shahid; Ifrah Shafqat; Asma Gul; Torben Hansen
Journal:  BMC Med Genet       Date:  2019-09-05       Impact factor: 2.103
  2 in total

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