Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
- Published in:
- Pediatric Diabetes, 2015, v. 16, n. 4, p. 305, doi. 10.1111/pedi.12160
- By:
- Publication type:
- Article
Works by Al-Haggar, Mohammad
Results: 23
1
2
Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.
- Published in:
- International Journal of Gynecology & Obstetrics, 2014, v. 124, n. 2, p. 174, doi. 10.1016/j.ijgo.2013.09.014
- By:
- Publication type:
- Article
3
Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations.
- Published in:
- Middle East Journal of Medical Genetics, 2012, v. 1, n. 2, p. 71, doi. 10.1097/01.MXE.0000414810.01450.3c
- By:
- Publication type:
- Article
4
Retraction Note: Endothelin-1 and Leptin as Markers of Intrauterine Growth Restriction.
- Published in:
- Indian Journal of Pediatrics, 2024, v. 91, n. 8, p. 876, doi. 10.1007/s12098-024-05093-2
- By:
- Publication type:
- Article
5
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 5, p. 4481, doi. 10.1007/s11033-023-08387-4
- By:
- Publication type:
- Article
6
Platelet count and serum thrombopoietin level as predictors for morbidity and/or mortality in thrombocytopenic neonates.
- Published in:
- Hematology, 2012, v. 17, n. 6, p. 341, doi. 10.1179/1607845412Y.0000000026
- By:
- Publication type:
- Article
7
Acute painful crises of sickle cell disease in Egyptian children: predictors of severity for a preventive strategy.
- Published in:
- 2006
- By:
- Publication type:
- journal article
8
Disruptive behavior in Down syndrome children: a cross-sectional comparative study.
- Published in:
- Annals of Saudi Medicine, 2014, v. 34, n. 6, p. 517, doi. 10.5144/0256-4947.2014.517
- By:
- Publication type:
- Article
9
Sporadic Fiibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/834605
- By:
- Publication type:
- Article
10
p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2011, v. 78, n. 1, p. 103, doi. 10.1007/s12098-010-0230-y
- By:
- Publication type:
- Article
11
Endothelin-1 and leptin as markers of intrauterine growth restriction.
- Published in:
- Indian Journal of Pediatrics, 2009, v. 76, n. 5, p. 485, doi. 10.1007/s12098-009-0079-0
- By:
- Publication type:
- Article
12
Correlation of thyroid and growth hormones to chromosomal instability in Egyptian Fanconi anemia patients.
- Published in:
- Indian Journal of Pediatrics, 2008, v. 75, n. 7, p. 679, doi. 10.1007/s12098-008-0128-0
- By:
- Publication type:
- Article
13
Impact of long-term oral iron supplementation in breast-fed infants.
- Published in:
- Indian Journal of Pediatrics, 2007, v. 74, n. 8, p. 739, doi. 10.1007/s12098-007-0130-y
- By:
- Publication type:
- Article
14
" GENETIC SELECTION AMONG EGYPTIAN ADOLESCENTS AS AN INDICATOR FOR MUSCLE FATIGUE ".
- Published in:
- International Journal of Sports Science & Arts - English, 2017, v. 2, n. part 2, p. 18
- By:
- Publication type:
- Article
15
Vitamin E and N-Acetylcysteine as Antioxidant Adjuvant Therapy.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
16
A Novel Fibrillin–1 Mutation in an Egyptian Marfan Family: A Proband Showing Nephrotic Syndrome Due to Focal Segmental Glomerulosclerosis.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2017, v. 28, n. 1, p. 141, doi. 10.4103/1319-2442.198166
- By:
- Publication type:
- Article
17
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
- Published in:
- Clinical & Experimental Nephrology, 2012, v. 16, n. 4, p. 604, doi. 10.1007/s10157-012-0603-9
- By:
- Publication type:
- Article
18
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
- Published in:
- Clinical & Experimental Nephrology, 2009, v. 13, n. 4, p. 288, doi. 10.1007/s10157-008-0126-6
- By:
- Publication type:
- Article
19
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1134, doi. 10.1038/ejhg.2012.77
- By:
- Publication type:
- Article
20
Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
- Published in:
- Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01837-8
- By:
- Publication type:
- Article
21
MRI CSF flowmetry in evaluation of different neurological diseases.
- Published in:
- Egyptian Journal of Radiology & Nuclear Medicine, 2021, v. 52, n. 1, p. 1, doi. 10.1186/s43055-021-00429-w
- By:
- Publication type:
- Article
22
Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.
- Published in:
- 2022
- By:
- Publication type:
- journal article
23
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 12, p. 1017, doi. 10.3390/cells13121017
- By:
- Publication type:
- Article