Ullah A - Search Results

1

Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.

Ullah A, Shah AA, Syed F, Mahmood A, Ur Rehman H, Khurshid B, Samad A, Ahmad W, Basit S. Ullah A, et al. Medicina (Kaunas). 2023 Feb 16;59(2):379. doi: 10.3390/medicina59020379. Medicina (Kaunas). 2023. PMID: 36837579 Free PMC article.

2

Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1.

Ullah A, Ullah MF, Khalid ZM, Ahmad W. Ullah A, et al. Among authors: ullah mf. Pediatr Int. 2016 Dec;58(12):1348-1350. doi: 10.1111/ped.13023. Pediatr Int. 2016. PMID: 27085093 No abstract available.

3

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Umair M, Rafique A, Ullah A, Ahmad F, Ali RH, Nasir A, Ansar M, Ahmad W. Umair M, et al. Among authors: ullah a. Congenit Anom (Kyoto). 2017 Mar;57(2):45-51. doi: 10.1111/cga.12187. Congenit Anom (Kyoto). 2017. PMID: 27577507

4

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Ullah A, Umair M, Ahmad F, Muhammad D, Basit S, Ahmad W. Ullah A, et al. Ophthalmic Genet. 2017 Jul-Aug;38(4):335-339. doi: 10.1080/13816810.2016.1227456. Epub 2017 Jan 13. Ophthalmic Genet. 2017. PMID: 28085523

5

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.

Ullah A, Hammid A, Umair M, Ahmad W. Ullah A, et al. Mol Syndromol. 2017 Mar;8(2):79-84. doi: 10.1159/000453350. Epub 2016 Dec 20. Mol Syndromol. 2017. PMID: 28611547 Free PMC article.

6

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: ullah a. Pediatr Res. 2017 Nov;82(5):753-758. doi: 10.1038/pr.2017.149. Epub 2017 Jul 26. Pediatr Res. 2017. PMID: 28665926

7

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W. Ullah A, et al. Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017. Mol Vis. 2017. PMID: 28761321 Free PMC article.

8

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: ullah i, ullah a. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. doi: 10.1093/hmg/ddx335. Hum Mol Genet. 2017. PMID: 28973407

9

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Ullah A, Umair M, E-Kalsoom U, Shahzad S, Basit S, Ahmad W. Ullah A, et al. J Hum Genet. 2018 Jan;63(1):97-100. doi: 10.1038/s10038-017-0358-y. Epub 2017 Nov 16. J Hum Genet. 2018. PMID: 29215096 Clinical Trial.

10

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

Ullah A, Khalid M, Umair M, Khan SA, Bilal M, Khan S, Ahmad W. Ullah A, et al. Congenit Anom (Kyoto). 2018 Sep;58(5):173-175. doi: 10.1111/cga.12264. Epub 2017 Dec 22. Congenit Anom (Kyoto). 2018. PMID: 29232001 No abstract available.

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