Résultat de recherche

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Aurore Carre, Athanasia Stoupa, Michel Polak

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Mutations in BOREALIN cause thyroid dysgenesis.

Michel Polak, Aurore Carre, Athanasia Stoupa, Dulanjalee Kariyawasam

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Update of Thyroid Developmental Genes.

Michel Polak, Athanasia Stoupa, Dulanjalee Kariyawasam, Aurore Carre

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Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Michel Polak, Jacques Beltrand

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DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome.

Michel Polak, Dulanjalee Kariyawasam, Aurore Carre

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RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.

Michel Polak

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Aurore Carre

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Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Jean-Laurent CASANOVA , Aurélie Cobat, Laurent Abel

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Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Jean-Laurent CASANOVA

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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Laurent Abel , Gaspard Kerner, Aurélie Cobat

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SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Laurent Abel

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA

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