Malik S - Search Results

1

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.

Koprulu M, Kumare A, Bibi A, Malik S, Tolun A. Koprulu M, et al. Among authors: malik s. Am J Med Genet A. 2021 Jun;185(6):1858-1863. doi: 10.1002/ajmg.a.62163. Epub 2021 Mar 11. Am J Med Genet A. 2021. PMID: 33709629

2

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

Malik S, Afzal M, Gul S, Wahab A, Ahmad M. Malik S, et al. Am J Med Genet A. 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. Am J Med Genet A. 2010. PMID: 20683984

3

Polydactyly: phenotypes, genetics and classification.

Malik S. Malik S. Clin Genet. 2014 Mar;85(3):203-12. doi: 10.1111/cge.12276. Epub 2013 Oct 18. Clin Genet. 2014. PMID: 24020795 Review.

4

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. Mumtaz S, et al. Among authors: malik s. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333564

5

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S. Mumtaz S, et al. Among authors: malik s. Eur J Med Genet. 2017 May;60(5):268-274. doi: 10.1016/j.ejmg.2017.03.004. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315472

6

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. Afzal M, et al. Among authors: malik s. Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27. Eur J Med Genet. 2017. PMID: 28559208

7

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: malik s. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205

8

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: malik s. J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10. J Med Genet. 2018. PMID: 29127258

9

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Shabbir RMK, et al. Among authors: malik s. J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7. J Med Genet. 2018. PMID: 29514872

10

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A. Yıldırım Y, et al. Among authors: malik s. Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26. Eur J Hum Genet. 2018. PMID: 29581481 Free PMC article.

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