الرئيسية › دليل الباحثين › Patrick Nitschké

Patrick Nitschké

الانتماء : Inserm · Institut des Maladies Génétiques Imagine · Université Paris Descartes · Structure fédérative de recherche Necker

• 10منشورات (انتماء فرنسي)
• 266مجموع المنشورات
• 18632الاستشهادات
• 68مؤشر h

ORCIDOpenAlex

مجالات البحث

• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Genetic and Kidney Cyst Diseases
• Immunodeficiency and Autoimmune Disorders
• Fetal and Pediatric Neurological Disorders

المنشورات (10)

• High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis
  2021 · Frontiers in Endocrinology · استُشهد به 33 مرة
• Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes
  2019 · bioRxiv (Cold Spring Harbor Laboratory) · استُشهد به 2 مرة
• Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations
  2018 · Thyroid · استُشهد به 29 مرة
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
  2017 · Nature Genetics · استُشهد به 132 مرة
• FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
  2017 · The American Journal of Human Genetics · استُشهد به 95 مرة
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
  2015 · European Journal of Human Genetics · استُشهد به 41 مرة
• Refining the phenotype associated with CASC5 mutation
  2015 · Neurogenetics · استُشهد به 23 مرة
• A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
  2014 · Journal of the American Society of Nephrology · استُشهد به 119 مرة
• TCTN3 Mutations Cause Mohr-Majewski Syndrome
  2012 · The American Journal of Human Genetics · استُشهد به 134 مرة
• High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
  2010 · Human Mutation · استُشهد به 33 مرة

مجلات النشر

• The American Journal of Human Genetics × 2
• Frontiers in Endocrinology × 1
• bioRxiv (Cold Spring Harbor Laboratory) × 1
• Thyroid × 1
• Nature Genetics × 1
• European Journal of Human Genetics × 1

المنشورات حسب السنة

• 20211
• 20191
• 20181
• 20172
• 20152
• 20141
• 20121
• 20101

التعاون العلمي

المؤسسات الشريكة : Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris · Sorbonne Paris Cité · Institut Necker Enfants Malades · Université Paris Cité

بلدان المؤلفين المشاركين : المغرب · تونس

المؤلفون المشاركون

• Christine Bôle‐Feysot
• Stanislas Lyonnet
• Sophie Thomas
• Arnold Münnich
• Bettina Bessières
• Jéléna Martinovic
• Michel Polak
• Laurence Lœuillet
• Aurore Carré
• Cécile Masson
• Jean‐François Deleuze
• Maryse Bonnière

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).