Zaki MS - Search Results

1

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Li S, Takada S, Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T, Matsumoto N, Miyake N. Li S, et al. Among authors: zaki ms. NPJ Genom Med. 2024 Nov 5;9(1):55. doi: 10.1038/s41525-024-00437-5. NPJ Genom Med. 2024. PMID: 39500882 Free PMC article.

2

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

Abdel-Salam GM, Zaki MS, Lebon P, Meguid NA. Abdel-Salam GM, et al. Among authors: zaki ms. Acta Paediatr. 2004 Jul;93(7):929-36. doi: 10.1111/j.1651-2227.2004.tb02691.x. Acta Paediatr. 2004. PMID: 15303808

3

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

Abdel-Salam GM, Shehab M, Zaki MS. Abdel-Salam GM, et al. Among authors: zaki ms. Brain Dev. 2006 Sep;28(8):529-33. doi: 10.1016/j.braindev.2006.01.009. Epub 2006 Mar 29. Brain Dev. 2006. PMID: 16564660

4

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Zaki M, et al. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Am J Med Genet A. 2007. PMID: 17431900

5

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. Zaki MS, et al. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

6

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549. Am J Med Genet A. 2008. PMID: 18925673

7

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

Abdel-Salam GM, Zaki MS. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2009 Jul;149A(7):1565-8. doi: 10.1002/ajmg.a.32894. Am J Med Genet A. 2009. PMID: 19530192 No abstract available.

8

Chilblains as a diagnostic sign of aicardi-goutières syndrome.

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Abdel-Aleem AK, Lebon P, Crow YJ. Abdel-Salam GM, et al. Among authors: zaki ms. Neuropediatrics. 2010 Feb;41(1):18-23. doi: 10.1055/s-0030-1255059. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571986

9

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. Zaki MS, et al. Am J Med Genet A. 2011 Dec;155A(12):3035-41. doi: 10.1002/ajmg.a.34078. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002884 Free PMC article.

10

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Abdel-Salam GM, Abdel-Hamid MS, Saleem SN, Ahmed MK, Issa M, Effat LK, Kayed HF, Zaki MS, Gaber KR. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2012 Aug;158A(8):1823-31. doi: 10.1002/ajmg.a.35480. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786707

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

315 results

Search Page

Filters