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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Nature communications, 2019-03, Vol.10 (1), p.1180-1180, Article 1180

2019

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High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control

BMC research notes, 2017-06, Vol.10 (1), p.188-188, Article 188

2017

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A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

Journal of medical case reports, 2017-06, Vol.11 (1), p.158-158, Article 158

2017

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Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco

Journal of dermatology, 2012-04, Vol.39 (4), p.382-384

2012

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High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome

Journal of applied genetics, 2024-05, Vol.65 (2), p.303-308

2024

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Identification of a novel LAMA2 c.2217G > A, p.(Trp739) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC medical genomics, 2021-04, Vol.14 (1), p.113-6, Article 113

2021

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Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis

The Pan African medical journal, 2022-01, Vol.41, p.121-121

2022

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First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

Oncology letters, 2016-08, Vol.12 (2), p.1192-1196

2016

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A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report

Journal of medical case reports, 2018-03, Vol.12 (1), p.53-53, Article 53

2018

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Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer

African health sciences, 2014-06, Vol.14 (2), p.468-471

2014

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Identification of a novel LAMA2 c.2217G A, p

BMC medical genomics, 2021-04, Vol.14 (1)

2021

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Further evidence of POP1 mutations as the cause of anauxetic dysplasia

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2462-2465

2016

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AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population

Genetic testing and molecular biomarkers, 2015-11, Vol.19 (11), p.623

2015

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Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report

BMC oral health, 2015-01, Vol.15 (1), p.14-14, Article 14

2015

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Low level of consanguinity in moroccan families at high risk of breast cancer

Asian Pacific journal of cancer prevention : APJCP, 2013-01, Vol.14 (2), p.723-726

2013

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Frequencies of CYP3A51/3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients

Genetic testing and molecular biomarkers, 2012-06, Vol.16 (6), p.644

2012

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Low Level of Consanguinity in Moroccan Families at High Risk of Breast Cancer

Asian Pacific journal of cancer prevention : APJCP, 2013, Vol.14 (2), p.723-726

2013

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Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco

Genetic testing and molecular biomarkers, 2012-08, Vol.16 (8), p.981

2012

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Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer

Oncology letters, 2011-03, Vol.2 (2), p.389-393

2011

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Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population

BMC genetics, 2014-12, Vol.15, p.156

2014

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome

Identification of a novel LAMA2 c.2217G > A, p.(Trp739) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis

First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer

Identification of a novel LAMA2 c.2217G A, p

Further evidence of POP1 mutations as the cause of anauxetic dysplasia

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report

Low level of consanguinity in moroccan families at high risk of breast cancer

Frequencies of CYP3A51/3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients

Low Level of Consanguinity in Moroccan Families at High Risk of Breast Cancer

Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco

Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population

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