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  • 1-10 ل  87 نتائج ل ""human genetics""

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Collection : Universite Grenoble Alpes
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Academic Journal

French‐Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten

Subjects: [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system

  • Source: ISSN: 0009-9236.

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Academic Journal

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants.

Subjects: azoospermia; infertility; piRNA

  • Source: ISSN: 2047-2927 ; Andrology ; https://hal.science/hal-04700579 ; Andrology, In press, Online ahead of print. ⟨10.1111/andr.13730⟩.

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Academic Journal

Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family

Subjects: azoospermia; male infertility; non-obstructive azoospermia

  • Source: ISSN: 0009-9163.

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Academic Journal

Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1

Subjects: MESH: Aging; Premature; MESH: Bipolar Disorder / genetics

  • Source: ISSN: 2158-3188.

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Academic Journal

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma

Subjects: [SDV]Life Sciences [q-bio]; [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Genomics [q-bio.GN]

  • Source: ISSN: 1078-0432.

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Academic Journal

Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores

Subjects: GWAS summary statistics; misspecifications; polygenic scores

  • Source: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-04144877 ; Human

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Academic Journal

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility

Subjects: asthenozoospermia; DRC4; GAS8

  • Source: ISSN: 0009-9163.

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Academic Journal

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Subjects: 1p36 deletion syndrome; chromosomal deletion; genotype–phenotype correlation

  • Source: ISSN: 1552-4825.

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Academic Journal

Phenotype and imaging features associated with APP duplications

Subjects: Cerebral amyloid angiopathy; Alzheimer disease; APP duplication

  • Source: ISSN: 1758-9193 ; Alzheimer's Research and Therapy ; https://hal.science/hal-04283785 ; Alzheimer's Research and Therapy, 2023, 15, pp.93. ⟨10.1186/s13195-023-01172-2⟩.

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Academic Journal

Accelerated aging in bipolar disorders: An exploratory study of six epigenetic clocks

Subjects: [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

  • Source: ISSN: 0165-1781.

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  • 1-10 ل  87 نتائج ل ""human genetics""