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A. Sefiani
Affiliation : Mohammed V University · Institut National d'Hygiène du Maroc · Centre Hospitalier Ibn Sina
- 13Publications (affiliation in Morocco)
- 26Total publications
- 876Citations
- 10h-index
Research profile
A. Sefiani has 13 indexed publications (1995–2019). Their work appears mainly in “Nature Genetics”, “Annales de Dermatologie et de Vénéréologie” and “Molecular Genetics & Genomic Medicine”. Their most cited article, “A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation” (2000), has been cited 239 times. Their work is co-authored with at least 12 researchers, including institutions in United States.
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Create my free profile Add my publicationsResearch areas
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic and rare skin diseases.
- Genetic Associations and Epidemiology
- Muscle Physiology and Disorders
Publications (13)
- Diagnostic moléculaire des mutations récurrentes des gènes XPC et XPA chez les patients marocains atteints de xeroderma pigmentosum
- Genetics and genomic medicine in Morocco: the present hope can make the future bright
- The first mutations in the MYH gene reported in Moroccan colon cancer patients
- Estimation de la prévalence de la mutation p.G352fsdelG du gène PAH de la phénylcétonurie au Maroc
- Confirmation de la forte prévalence au Maroc de la mutation homozygote c.144delC du gène aurora kinase C (AURKC) dans les tératozoospermies avec spermatozoïdes macrocéphales
- Syndrome d’Hutchinson-Gilford (progéria). À propos de 3 cas
- Multiple sources of metabolic disturbance inETHE1‐related ethylmalonic encephalopathy
- The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population
- Omenn Syndrome with Mutation in RAG1 Gene
- Incontinentia pigmenti : à propos d’un cas
- A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
- Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations
- Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
Publication venues
- Nature Genetics × 2
- Annales de Dermatologie et de Vénéréologie × 1
- Molecular Genetics & Genomic Medicine × 1
- Gene × 1
- Revue d Épidémiologie et de Santé Publique × 1
- Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction × 1
Publications per year
- 20191
- 20161
- 20122
- 20112
- 20101
- 20091
- 20081
- 20071
- 20001
- 19961
Collaborations
Partner institutions : University of Hassan II Casablanca · Centre Hospitalier Universitaire Hassan II · National Institutes of Health
Co-authors’ countries : United States
Co-authors
- Fatima Zahra Laarabi
- Afaf Lamzouri
- Fatiha El Kerch
- Karim Ouldim
- Ilham Ratbi
- Ali Benomar
- Sellama Nadifi
- H. Bellayou
- Khadija Belhassan
- Imane Cherkaoui Jaouad
- Basma Karrakchou
- Yassamine Doubaj
Bibliographic data from OpenAlex (open database).
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