الرئيسية › دليل الباحثين › Serge Amselem

Serge Amselem

الانتماء : Inserm · Sorbonne Université · Hôpital Armand-Trousseau · Assistance Publique – Hôpitaux de Paris · Hôpital Tenon · Maladies génétiques d’expression pédiatrique

• 10منشورات (انتماء فرنسي)
• 437مجموع المنشورات
• 15128الاستشهادات
• 70مؤشر h

ORCIDOpenAlex

مجالات البحث

• Inflammasome and immune disorders
• Genomics and Rare Diseases
• Growth Hormone and Insulin-like Growth Factors
• Cystic Fibrosis Research Advances
• Pituitary Gland Disorders and Treatments

المنشورات (10)

• An Algerian Family with TNF Receptor Associated Periodic Syndrome (TRAPS) Associated Amyloidosis and the p.Thr79Met Mutation: Long-Term Follow-Up and Therapeutic Challenges in a Resource-Limited Setting
  2026 · International Journal of Advanced Multidisciplinary Research and Studies
• High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia
  2022 · Annals of the American Thoracic Society · استُشهد به 17 مرة
• Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
  2022 · Journal of Human Genetics · استُشهد به 8 مرة
• Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
  2019 · Human Mutation · استُشهد به 25 مرة
• Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
  2019 · Human Mutation · استُشهد به 12 مرة
• Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
  2014 · Clinical Endocrinology · استُشهد به 21 مرة
• Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
  2014 · Journal of Medical Case Reports · استُشهد به 7 مرة
• Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene
  2008 · Molecular Medicine · استُشهد به 35 مرة
• Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection
  2003 · Blood · استُشهد به 11 مرة
• DNA haplotype distribution in Algerian ? thalassaemia patients
  1988 · Human Genetics · استُشهد به 20 مرة

مجلات النشر

• Human Mutation × 2
• International Journal of Advanced Multidisciplinary Research and Studies × 1
• Annals of the American Thoracic Society × 1
• Journal of Human Genetics × 1
• Clinical Endocrinology × 1
• Journal of Medical Case Reports × 1

المنشورات حسب السنة

• 20261
• 20222
• 20192
• 20142
• 20081
• 20031
• 19881

التعاون العلمي

المؤسسات الشريكة : Hôpital Mustapha Pacha · Laboratoire d'hématologie · Hôpital Européen Georges-Pompidou · Université Pierre-et-Marie-Curie · Hôpital Necker-Enfants Malades

بلدان المؤلفين المشاركين : الجزائر · تونس

المؤلفون المشاركون

• Marie Legendre
• Marie‐Laure Sobrier
• Nathalie Collot
• Estelle F. Escudier
• Sophie Rose
• Marie‐Pierre Luton
• Sabrina Belkacem
• Guy Montantin
• Rahma Mani
• Sylvie Tissier
• Cherif Beldjord
• Jacqueline Tapon‐Bretaudière

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).