Gaber KR - Search Results

1

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: gaber kr. 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

2

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: gaber kr. 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

3

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Abdel-Salam GM, Abdel-Hamid MS, El-Khayat HA, Eid OM, Saba S, Farag MK, Saleem SN, Gaber KR. Abdel-Salam GM, et al. Among authors: gaber kr. Am J Med Genet A. 2015 May;167A(5):1089-99. doi: 10.1002/ajmg.a.37010. Epub 2015 Mar 10. Am J Med Genet A. 2015. PMID: 25755095

4

Expanding the mutation and clinical spectrum of Roberts syndrome.

Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR. Afifi HH, et al. Among authors: gaber kr. Congenit Anom (Kyoto). 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151. Congenit Anom (Kyoto). 2016. PMID: 26710928

5

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

El-Ruby M, El-Din Fayez A, El-Dessouky SH, Aglan MS, Mazen I, Ismail N, Afifi HH, Eid MM, Mostafa MI, Mehrez MI, Khalil Y, Zaki MS, Gaber KR, Abdel-Hamid MS, Abdel-Salam GMH. El-Ruby M, et al. Among authors: gaber kr. Am J Med Genet A. 2018 May;176(5):1190-1194. doi: 10.1002/ajmg.a.38655. Am J Med Genet A. 2018. PMID: 29681084

6

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D, Elbendary HM, Gaber KR, Nabil A, Abdel-Hamid MS, Zaki MS, Gleeson JG. Issa MY, et al. Among authors: gaber kr. BMC Med Genomics. 2020 May 13;13(1):68. doi: 10.1186/s12920-020-0714-1. BMC Med Genomics. 2020. PMID: 32404165 Free PMC article.

7

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

Essawi ML, Al-Attribi GM, Gaber KR, El-Harouni AA. Essawi ML, et al. Among authors: gaber kr. Gene. 2012 Nov 1;509(1):120-3. doi: 10.1016/j.gene.2012.07.085. Epub 2012 Aug 17. Gene. 2012. PMID: 22921322

8

Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study.

Afifi HH, Gaber KR, Thomas MM, Taher MB, Tosson AMS. Afifi HH, et al. Among authors: gaber kr. Am J Perinatol. 2022 Nov;39(15):1659-1667. doi: 10.1055/s-0041-1724002. Epub 2021 Feb 26. Am J Perinatol. 2022. PMID: 33636738

9

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.

El-Kamah GY, Mehrez MI, Taher MB, El-Bassyouni HT, Gaber KR, Amr KS. El-Kamah GY, et al. Among authors: gaber kr. Genes (Basel). 2023 Apr 12;14(4):900. doi: 10.3390/genes14040900. Genes (Basel). 2023. PMID: 37107657 Free PMC article.

10

Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.

Gaber KR, Farag MK, Soliman SE, El-Bassyouni HT, El-Kamah G. Gaber KR, et al. Clin Lab. 2007;53(1-2):69-75. Clin Lab. 2007. PMID: 17323828

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