الرئيسية › دليل الباحثين › Jamel Chelly

Jamel Chelly

الانتماء : Hôpitaux Universitaires de Strasbourg

• 10منشورات (انتماء فرنسي)
• 557مجموع المنشورات
• 32772الاستشهادات
• 89مؤشر h

ORCIDOpenAlex

مجالات البحث

• Genetics and Neurodevelopmental Disorders
• Genomics and Rare Diseases
• Genomic variations and chromosomal abnormalities
• Down syndrome and intellectual disability research
• Fetal and Pediatric Neurological Disorders

المنشورات (10)

• Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children
  2022 · Journal of Clinical Images and Medical Case Reports
• Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
  2018 · Nature Genetics · استُشهد به 86 مرة
• First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
  2017 · BMC Medical Genetics · استُشهد به 22 مرة
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
  2015 · European Journal of Human Genetics · استُشهد به 41 مرة
• When a mid-intronic variation of DMD gene creates an ESE site
  2014 · Neuromuscular Disorders · استُشهد به 31 مرة
• A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
  2011 · European Journal of Medical Genetics · استُشهد به 19 مرة
• A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
  2008 · European Journal of Human Genetics · استُشهد به 50 مرة
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
  2003 · Nature Genetics · استُشهد به 172 مرة
• A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
  2000 · Nature Genetics · استُشهد به 239 مرة
• Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)
  1999 · American Journal of Medical Genetics · استُشهد به 9 مرة

المؤلفون المشاركون

• Yoann Saillour
• Cherif Beldjord
• V. des Portes
• Claude Moraine
• Thierry Bienvenu
• Nadia Bahi‐Buisson
• Bettina Bessières
• Axel Kahn
• Marie Claude Vinet
• Nicole Philip
• Alain Carrié
• France Leturcq

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).