关注
Mutaz Amin
Mutaz Amin
Geneticist
在 inserm.fr 的电子邮件经过验证
标题
引用次数
引用次数
年份
The gene curation coalition: a global effort to harmonize gene–disease evidence resources
MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ...
Genetics in Medicine 24 (8), 1732-1742, 2022
732022
Transmission of Plasmodium vivax in Duffy-negative individuals in central Sudan
MH Abdelraheem, MMA Albsheer, HS Mohamed, M Amin, ...
Transactions of The Royal Society of Tropical Medicine and Hygiene 110 (4 …, 2016
442016
Multiplicity of infection and genetic diversity of Plasmodium falciparum isolates from patients with uncomplicated and severe malaria in Gezira State, Sudan
M Mahdi Abdel Hamid, AF Elamin, MMA Albsheer, AAA Abdalla, ...
Parasites & vectors 9, 1-8, 2016
392016
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
A Yahia, L Elsayed, A Babai, MA Salih, SM El-Sadig, M Amin, M Koko, ...
BMC neurology 18 (1), 1-6, 2018
212018
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
M Koko, MOE Abdallah, M Amin, M Ibrahim
BMC genomics 19 (1), 1-8, 2018
202018
Molecular evidence of high proportion of Plasmodium vivax malaria infection in White Nile area in Sudan
MMA Suliman, BM Hamad, MMA Albasheer, M Elhadi, M Amin Mustafa, ...
Journal of parasitology research 2016, 2016
202016
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ...
BMC medical genetics 19 (1), 1-5, 2018
152018
Comorbidity of Novel CRHR2 Gene Variants in Type 2 Diabetes and Depression
M Amin, J Ott, D Gordon, R Wu, TT Postolache, M Vergare, C Gragnoli
International journal of molecular sciences 23 (17), 9819, 2022
122022
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report
M Amin, Y BAkHIT, M KOkO, MOM Ibrahim, MA Salih, M Ibrahim, OA Seidi
Acta Myologica 38 (1), 21, 2019
112019
Frequency of mitochondrial m. 1555A> G mutation in Syrian patients with non-syndromic hearing impairment
H Kaheel, A Breß, MA Hassan, AA Shah, M Amin, YHY Bakhit, M Kniper
BMC Ear, Nose and Throat Disorders 18, 1-4, 2018
112018
Genetic diversity and multiplicity of Plasmodium falciparum merozoite surface protein 2 in field isolates from Sudan
SO Mustafa, MM Abdel Hamid, MA Aboud, M Amin, MS Muneer, K Yasin, ...
F1000Research 6, 1790, 2017
92017
Novel variants causing megalencephalic leukodystrophy in Sudanese families
M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, S Drunat, ...
Journal of Human Genetics 67 (3), 127-132, 2022
82022
Linkage and association of novel DRD2 variants to the comorbidity of type 2 diabetes and depression (vol 22, pg 8370, 2022)
M Amin, R Wu, TT Postolache, C Gragnoli
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES 27 (18), 8322-8322, 2023
7*2023
Oxytocin receptor (OXTR) is a risk gene for polycystic ovarian syndrome
M Amin, N Horst, R Wu, C Gragnoli
European Review for Medical and Pharmacological Sciences 27, 2634-2639, 2023
72023
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
M Amin, C Vignal, E Eltaraifee, IN Mohammed, AAA Hamed, MA Elseed, ...
BMC Medical Genomics 15 (1), 1-5, 2022
72022
Linkage and association of novel DRD2 variants to the comorbidity of type 2 diabetes and depression
M Amin, R Wu, TT Postolache, C Gragnoli
European Review for Medical and Pharmacological Sciences 26 (22), 8370-8375, 2022
72022
In silico analysis of SNPs in PARK2 and PINK1 genes that potentially cause autosomal recessive Parkinson disease
YHY Bakhit, MOM Ibrahim, M Amin, YA Mirghani, MAS Hassan
Advances in Bioinformatics 2016, 2016
72016
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
A Yahia, AAA Hamed, IN Mohamed, MA Elseed, MA Salih, SM El-Sadig, ...
European Journal of Human Genetics, 1-13, 2023
62023
Implication of melanocortin receptor genes in the familial comorbidity of type 2 diabetes and depression
M Amin, J Ott, R Wu, TT Postolache, C Gragnoli
International journal of molecular sciences 23 (15), 8350, 2022
62022
Melatonin receptor 1A (MTNR1A) gene linkage and association to type 2 diabetes in Italian families
M Amin, C Gragnoli
Eur Rev Med Pharmacol Sci 27 (10), 4688-4692, 2023
52023
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