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1 . Academic Journal
Phenotypic and cytogenetic variability of patau syndrome in Morocco.
저자
by
hammou, Hanane Ait
;
Sennaoui, Mariam
;
Bouzid, Fatimazahra
;
Dafir, Kenza
;
El Qabli, Meriem
, et al.
소스
African Health Sciences; Dec2023, Vol. 23 Issue 4, p575-581, 7p
Open Access (Bioline)
Scopus
Web of Science
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7 . Academic Journal
Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).
저자
by
Bouzid, Fatima Zahra
;
Mansouri, Maria
;
Abdelaziz, Chaikhy
;
Louhab, Nisrine
;
Bernard, Sablonniere
, et al.
소스
Pan African Medical Journal
. Jan-Apr2021, Vol. 38, p1-5. 5p.
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7 . Academic Journal
1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.
저자
by
Dafir, Kenza
;
Bouzid, Fatima Zahra
;
Mansouri, Maria
;
Aboussair, Nisrine
.
소스
Pan African Medical Journal
. Sep-Dec2020, Vol. 37, p1-6. 6p. 2 Color Photographs, 1 Diagram.
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6 . Academic Journal
Focal Dermal Hypoplasia: Case Series.
저자
by
Mansouri, Maria
;
Bouzid, Fatima
;
Amal, Said
;
Hocar, Oufae
;
Aboussair, Nissrine
.
소스
Indian Journal of Dermatology
. Jan/Feb2023, Vol. 68 Issue 1, p122-122. 1p.
Scopus
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7 . Academic Journal
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
저자
by
Chafai-Elalaoui, Siham
;
Chalon, Matthias
;
Elkhartoufi, Nadia
;
Kriouele, Yamna
;
Mansouri, Maria
, et al.
소스
Journal of Medical Case Reports
. 11/5/2015, Vol. 9, p1-5. 5p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain.
저자
by
Mansouri, Maria
;
Chafai Elalaoui, Siham
;
Ouled Amar Bencheikh, Bouchra
;
El Alloussi, Mohamed
;
Dion, Patrick A.
, et al.
소스
Pediatric Neurology
. Nov2014, Vol. 51 Issue 5, p741-744. 4p.
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 . Academic Journal
Associations between Clinical Characteristics and Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Moroccan Population with Type-2 Diabetic Nephropathy.
저자
by
Mansouri, Maria
;
Zniber, Amal
;
Boualla, Lamia
;
El Badaoui, Ghizlane
;
Benkacem, Mariam
, et al.
소스
Saudi Journal of Kidney Diseases & Transplantation; Mar/Apr2017, Vol. 28 Issue 2, p261-267, 7p
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7 . Academic Journal
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
저자
by
Elalaoui, Siham Chafai
;
Laarabi, Fatima Zahra
;
Mansouri, Maria
;
Mrani, Nidal Alaoui
;
Nishimura, Gen
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2016, Vol. 170A Issue 9, p2462-2465, 4p
Scopus
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7 . Periodical
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
저자
by
Lahrouchi, Najim
;
Lodder, Elisabeth M
;
Mansouri, Maria
;
Tadros, Rafik
;
Zniber, Layla
, et al.
소스
European Journal of Human Genetics: EJHG; June 2017, Vol. 25 Issue: 6 p783-787, 5p
Scopus
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7 . Academic Journal
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
저자
by
Mansouri, Maria
;
Kayserili, Hülya
;
Elalaoui, Siham Chafai
;
Nishimura, Gen
;
Iida, Aritoshi
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2016, Vol. 170A Issue 2, p460-465, 6p
Scopus
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