Alhaddad B - Search Results

1

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: alhaddad b. Pediatr Res. 2017 Nov;82(5):753-758. doi: 10.1038/pr.2017.149. Epub 2017 Jul 26. Pediatr Res. 2017. PMID: 28665926

2

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: alhaddad b. Eur J Hum Genet. 2017 Aug;25(8):960-965. doi: 10.1038/ejhg.2017.83. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488682 Free PMC article.

3

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W. Umair M, et al. Among authors: alhaddad b. J Genet. 2017 Dec;96(6):1005-1014. doi: 10.1007/s12041-017-0868-6. J Genet. 2017. PMID: 29321360

4

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Umair M, Bilal M, Ali RH, Alhaddad B, Ahmad F, Abdullah, Haack TB, Alfadhel M, Ansar M, Meitinger T, Ahmad W. Umair M, et al. Among authors: alhaddad b. Clin Genet. 2019 Aug;96(2):134-139. doi: 10.1111/cge.13547. Epub 2019 Apr 22. Clin Genet. 2019. PMID: 30945277

5

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. Baertling F, et al. Among authors: alhaddad b. Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8. Metab Brain Dis. 2017. PMID: 27502409

6

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Vill K, Müller-Felber W, Alhaddad B, Strom TM, Teusch V, Weigand H, Blaschek A, Meitinger T, Haack TB. Vill K, et al. Among authors: alhaddad b. Mov Disord. 2017 May;32(5):797-799. doi: 10.1002/mds.26922. Epub 2017 Feb 2. Mov Disord. 2017. PMID: 28150420 No abstract available.

7

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: alhaddad b. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.

8

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. Among authors: alhaddad b. Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017. Mol Vis. 2017. PMID: 28761321 Free PMC article.

9

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. Among authors: alhaddad b. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646

10

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.

Braunisch MC, Riedhammer KM, Herr PM, Draut S, Günthner R, Wagner M, Weidenbusch M, Lungu A, Alhaddad B, Renders L, Strom TM, Heemann U, Meitinger T, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: alhaddad b. Eur J Hum Genet. 2021 Feb;29(2):262-270. doi: 10.1038/s41431-020-00719-3. Epub 2020 Sep 4. Eur J Hum Genet. 2021. PMID: 32887937 Free PMC article.

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