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  • 1-10 ل  137 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Subject : mesh
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Academic Journal

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Subjects: MESH: Adolescent; MESH: Adult; MESH: Obesity

  • Source: ISSN: 0340-6717.

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Academic Journal

Long-Term Functional Outcomes of an Anorectal Malformation French National Cohort

Subjects: Age group assessment; Clinical functioning; Social integration

  • Source: ISSN: 0277-2116.

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Academic Journal

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia

Subjects: bronchiectasis; cilia motility; genetic analysis

  • Source: ISSN: 2329-6933.

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Academic Journal

Prenatal Exposure to Diethylstilbestrol and Multigenerational Psychiatric Disorders: An Informative Family

Subjects: Psychiatric disorders; Diethylstilbestrol (DES); Multigenerational transmission

  • Source: ISSN: 1661-7827.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients

Subjects: Disorders of sex development; Genetics; Hypospadias

  • Source: ISSN: 0302-2838.

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Academic Journal

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

Subjects: SLC18A1; congenital myasthenic syndrome; vesicular acetylcholine transporter (VAChT)

  • Source: ISSN: 2073-4409 ; Cells ; https://hal.science/hal-04511348 ; Cells, 2021, 10 (12), pp.3481. ⟨10.3390/cells10123481⟩.

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Academic Journal

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

Subjects: Development; Epigenetics; Gestational age

  • Source: ISSN: 1756-994X ; Genome Medicine ; https://hal.umontpellier.fr/hal-03537765 ; Genome Medicine, 2020, 12 (1), pp.25. ⟨10.1186/s13073-020-0716-9⟩.

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Academic Journal

ATP8A2-related disorders as recessive cerebellar ataxia

Subjects: ATP8A2; Ataxia; CAMRQ

  • Source: ISSN: 0340-5354.

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Academic Journal

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Subjects: Social support; Intellectual disability; Patient care management

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical

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  • 1-10 ل  137 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""