Mol Genet Genomic Med

Jul 17 2020

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.

Mol Genet Genomic Med. 2020 Jul 17:e1408. doi: 10.1002/mgg3.1408.

https://pubmed.ncbi.nlm.nih.gov/32677750/

Mar 1 2015

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Mol Genet Genomic Med, Publications

Thiele S, Werner R, Grötzinger J, Brix B, Staedt P, Struve D, Reiz B, Farida J, Hiort O.

Mol Genet Genomic Med. 2015 Mar;3(2):111-20. doi: 10.1002/mgg3.117. Epub 2014 Dec 4.

http://www.ncbi.nlm.nih.gov/pubmed/25802881

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Institute for Cardiogenetics

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