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Nacim Louhichi (Tunisie) Marc Pechanski (France) Pierre Rustin (France) José Sahel (France) PROGRAMME : Théorique ( 1er et 2ème jour) : Onze conférences
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Researchgate: Nacim Louhichi
Sfax, Sakiet Ezzite, Tunisia
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Nacim Louhichi | XanEdu Customization Platform
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Author: Nacim Louhichi. Results. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.
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Nacim Louhichi - Academia.edu
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Contents
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NACIM LOUHICHI, CHAHNEZ TRIKI, MARIEM MEZIOU, SOUAD ROUIS, ... Relationship between dream contents and positive/negative symptoms in schizophrenic patients
Mutations in LAMA2 and CAPN3 genes associated with genetic and...
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· Ikhlass Hadj Salem, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, Faiza Fakhfakh.
Whole mitochondrial genome screening in two families with hearing...
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Bioscience Reports Dec 01, 2010, 30 (6) ; DOI: BSR Nacim Louhichi, Abdelaziz Tlili, Chahnez Triki, Abdelmoneem Ghorbel, Saber Masmoudi, ...
Scientific Publications
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Nadege Kammoun Jellouli, Ikhlass Hadj Salem, Emna Ellouz, Nacim Louhichi, ... Faiza Fakhfakh
Factor XIII deficiency in south of Tunisia: Ingenta Connect
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Copyright © Wolters Kluwer Health, Inc. All rights reserved. Factor XIII deficiency in south of Tunisia. Ines Maaloul a. , Moez Medhaffer b. , Nacim Louhichi c.
Founder mutations in Tunisia: implications for diagnosis in North...
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Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the...
LAMA2 - NextBio
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Faiza Fakhfakh; Nacim Louhichi; Claudia Di Blasi; Olfa Siala; Marina Mora. View All Affiliations icon Organizations. Faculté de Médecine de Sfax ...
Publications
Congenital lamellar ichthyosis in Tunisia is caused by a founder...
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By Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, Abderrahmen Masmoudi, Hamida Turki and Faiza Fakhfakh. Abstract. severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI.
Nacim Louhichi | PubFacts
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Nacim Louhichi Emna Bahloul Slaheddine Marrakchi Houda Ben Othman Chahnez Triki Kawthar Aloulou Lobna Trabelsi Nadia Mahfouth Zeineb Ayadi-Mnif Leila Keskes Faiza Fakhfakh Hamida Turki. Orphanet J Rare Dis ;14(1):112. Epub May 22. Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia.
Congenital lamellar ichthyosis in Tunisia is caused by a founder...
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Nacim Louhichi. Email author. Human Molecular Genetic Laboratory Faculty of Medicine of Sfax; Ikhlass Hadjsalem. Human Molecular Genetic Laboratory Faculty of Medicine …
Merosin-deficient congenital muscular dystrophy with mental...
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We report three Tunisian patients affected by congenital muscular dystrophy with mental retardation and cerebellar cysts on cranial magnetic resonance imaging....
Miscellaneous
Nacim Louhichi
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Search results for: Nacim Louhichi ... Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, more · Molecular Biology ...
All screenings for gene CAPN3 - Global Variome shared LOVD
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DNA;RNA, RT-PCR;SEQ, -, -, 1, Nacim Louhichi DNA;RNA, RT-PCR;SEQ, -, -, 2, Nacim Louhichi.
Molecular prenatal diagnosis of muscular dystrophies in Tunisia and...
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Gale Academic OneFile includes Molecular prenatal diagnosis of muscular dystrophies in by Olfa Siala, Fatma Kammoun Feki, Nacim L. Click to explore.
Clinical and Experimental Pediatrics
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Nourhene Fendri-Kriaa, Emna Mkaouar-Rebai, Dorsaf Moalla, Neila Belguith, Nacim Louhichi, Ramzi Zemni, Foued Slama, Chahnez Triki, ...
(PDF) Mutational analysis of the mitochondrial 12S rRNA and...
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Nacim Louhichi. Download with Google Download with Facebook or download with email. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) ...
All individuals with variants in gene LAMA2 - Global Variome shared...
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Nacim Louhichi: : Pat1/FamF2: PubMed: Louhichi 2006, PubMed: Siala 2007, PubMed: Siala 2008: 2-generation family, unaffected carrier parents and ...
Expanding the phenotype of GMPPB mutations | Read by QxMD
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Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh Neurogenetics 2004, 5 (1): [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
Congenital lamellar ichthyosis in Tunisia is caused by CNKIkns.cnki.net › kcms › detail › detail
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作者：, Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, Abderrahmen Masmoudi, Hamida Turki, Faiza Fakhfakh. 作者单位： ...
How to go about diagnosing and managing the limb-girdle muscular...
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Neurol India is an peer-reviewed biomedical periodical of Neurological Society of India.
Frontiers | Exome Analysis Identified Novel Homozygous Splice Site...
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Reviewed by: Tahir Ali, University of Calgary, Canada Musharraf Jelani, Islamia College University, Pakistan Nacim Louhichi, IPEIS, Tunisia.
Factor XIII deficiency in south of Tunisia. - X-MOLwww.x-mol.com › paper
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Ines Maaloul,Moez Medhaffer,Nacim Louhichi,Imen Krichen,Sofien Alibi,Sana Kmiha,Hajer Aloulou,Faiza Fakhfakh,Moez Elloumi,Choumous ...
FMS - Laboratoire de recherche: Génétique Moléculaire Humaine
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Nacim Louhichi: Maître assistant Fatma Abdallah Bahri: Maître assistante Bochra Ben Rhouma: Maître assistante Ghazi Chabchoub: Médecin santé publique ...
IMGT Education
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... Marie-Paule Lefranc (Université Montpellier 2 et CNRS), Hassen Hadj Kacem (Faculté de Médecine de Sfax), Nacim Louhichi (Faculté des ...
Pascale.Richard - Publications List
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Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities.
Ramzi Zemni | Faculté De Medecine De Sousse - Academia.edu
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by Ramzi Zemni, Foued Slama, Chahnez Triki, and Nacim Louhichi Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene.
Congenital lamellar ichthyosis in Tunisia is caused by ...
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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene Nacim Louhichi • Ikhlass Hadjsalem • Slaheddine ...
LAMA2-related myopathy: Frequency among congenital and limb-girdle...
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Ikhlass Hadj Salem, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, Faiza Fakhfakh ...
factor xiii deficiency
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Genomes and Genes, Research Topics, Species, Scientific Experts, Publications, Research Grants about factor xiii deficiency
New FKRP mutations causing congenital muscular Insermwww.hal.inserm.fr › inserm
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Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, et al.. New FKRP mutations causing congenital muscular dystrophy ...
Severe MDC1A congenital muscular dystrophy due to a splicing mutation...
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Olfa Siala, Nacim Louhichi, Chahnez Triki, Madeleine Morinière, Ahmed Rebai, et al.. Severe MDC1A congenital muscular dystrophy due to a splicing mutation ...
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