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Academic Journal

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ARCHIVES DE PEDIATRIE ; https://amu.hal.science/hal-03780225 ; ARCHIVES DE PEDIATRIE, 2022, 28 (8, 1)

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Academic Journal

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Subjects: SPTLC1; hereditary neuropathy; in silico tools

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-04796410 ; Genes, 2024, Advances in Genetics and Precision Medicine in Human Diseases, 15 (6), pp.692. ⟨10.3390/genes15060692⟩.

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Academic Journal

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

Subjects: Nephrocalcinosis; Vitamin D; Hypercalcemia

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-02272241 ; European Journal of Medical Genetics, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩.

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Academic Journal

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Subjects: [SDV]Life Sciences [q-bio]; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 0013-9580.

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Academic Journal

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Subjects: Congenital heart defects; Robo‑Slit pathway; Genetics

  • Source: EISSN: 1479-5876 ; Journal of Translational Medicine ; https://amu.hal.science/hal-04010246 ; Journal of Translational Medicine, 2023, 21 (1), pp.160. ⟨10.1186/s12967-023-03994-y⟩

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Academic Journal

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 0953-8194.

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Academic Journal

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

Subjects: isolated ACTH deficiency; low ACTH and cortisol; adrenal insufficiency

  • Source: ISSN: 1664-2392 ; Frontiers in Endocrinology ; https://amu.hal.science/hal-04254090 ; Frontiers in Endocrinology, 2023, 13, ⟨10.3389/fendo.2022.1080649⟩.

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Academic Journal

Morphological analysis of ventricular septal defect by echocardiography for prediction of aortic regurgitation in pediatric population

Subjects: Anatomy; Cardiology; Risk factors

  • Source: ISSN: 2045-2322.

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Academic Journal

Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 1875-2136.

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Academic Journal

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Subjects: Seizures; Symporters; Female

  • Source: ISSN: 0002-9297.

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  • 1-10 of  399 results for ""Pédiatrie""