الرئيسية › دليل الباحثين › Raja Brauner

Raja Brauner

الانتماء : Université Paris Descartes · Fondation Ophtalmologique Adolphe de Rothschild

• 9منشورات (انتماء فرنسي)
• 463مجموع المنشورات
• 13269الاستشهادات
• 72مؤشر h

ORCIDOpenAlex

مجالات البحث

• Hypothalamic control of reproductive hormones
• Growth Hormone and Insulin-like Growth Factors
• Pituitary Gland Disorders and Treatments
• Sexual Differentiation and Disorders
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

المنشورات (9)

• Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37
  2021 · Sexual Development · استُشهد به 29 مرة
• Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort
  2020 · Clinical Endocrinology · استُشهد به 52 مرة
• ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
  2018 · Proceedings of the National Academy of Sciences · استُشهد به 99 مرة
• Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
  2018 · Human Molecular Genetics · استُشهد به 84 مرة
• A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
  2015 · The Journal of Clinical Endocrinology & Metabolism · استُشهد به 53 مرة
• Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms
  2011 · European Journal of Endocrinology · استُشهد به 105 مرة
• Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
  2009 · Fertility and Sterility · استُشهد به 58 مرة
• A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism
  2008 · The Journal of Clinical Endocrinology & Metabolism · استُشهد به 85 مرة
• Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
  2007 · Molecular Human Reproduction · استُشهد به 109 مرة

مجلات النشر

• The Journal of Clinical Endocrinology & Metabolism × 2
• Sexual Development × 1
• Clinical Endocrinology × 1
• Proceedings of the National Academy of Sciences × 1
• Human Molecular Genetics × 1
• European Journal of Endocrinology × 1

المنشورات حسب السنة

• 20211
• 20201
• 20182
• 20151
• 20111
• 20091
• 20081
• 20071

التعاون العلمي

المؤسسات الشريكة : Institut Pasteur · Centre National de la Recherche Scientifique · Hôpital de la Timone · Assistance Publique Hôpitaux de Marseille · Centre de Recherche en Neurobiologie - Neurophysiologie de Marseille

بلدان المؤلفين المشاركين : المغرب · الجزائر

المؤلفون المشاركون

• Ken McElreavey
• Anu Bashamboo
• Joëlle Bignon‐Topalovic
• Thierry Christian Brue
• Alexandru Saveanu
• Rachel Reynaud
• Anne Barlier
• Frédéric Castinetti
• Alain Enjalbert
• F. Albarel
• Sandra Chantot‐Bastaraud
• Marie Helene Quentien

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).