Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter
  • 1-10 of  319 نتائج ل ""Genetics""

فلترة النتائج

Collection : Archive Ouverte Hal (Hyper Article En Ligne, Ccsd - Centre Pour La Communication Scientifique Directe) Language : english Format : Academic Journals Subject : 030504 nursing Subject : humans Subject : mesh فلترة بواسطة : موضوع
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Subjects: Partial / genetics; Epileptic Syndromes; GTPase-Activating Proteins / genetics

  • Source: ISSN: 0964-6906.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Genomic perspectives on human dispersals during the Holocene

Subjects: genomics; dispersal; Holocene

  • Source: ISSN: 0027-8424.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Subjects: U4atac; genetic disease; minor introns

  • Source: ISSN: 0027-8424.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Subjects: Male; Female; Humans

  • Source: ISSN: 1359-4184.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Neoadjuvant Nivolumab Plus Ipilimumab and Adjuvant Nivolumab in Localized Deficient Mismatch Repair/Microsatellite Instability-High Gastric or Esophagogastric Junction Adenocarcinoma: The GERCOR NEONIPIGA Phase II Study

Subjects: antineoplastic agent; ipilimumab; nivolumab

  • Source: ISSN: 0732-183X.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Subjects: MESH: Artificial Intelligence; Humans; Muscular Dystrophy

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://amu.hal.science/hal-03596523 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.96. ⟨10.1186/s13023-021-01793-6⟩ ;

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

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

Subjects: MESH: Adolescent; MESH: Adult; MESH: Male

  • Source: ISSN: 0277-2116.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
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.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

The impact of CD160 deficiency on alloreactive CD8 T cell responses and allograft rejection

Subjects: MESH: 4-1BB Ligand / metabolism; MESH: Allografts; MESH: Female

  • Source: ISSN: 1931-5244 ; Translational Research, The Journal of Laboratory and Clinical Medicine ; https://inserm.hal.science/inserm-04261930 ; Translational Research, The Journal of Laboratory and

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis

Subjects: MESH: Adult; MESH: Colchicine; MESH: Familial Mediterranean Fever

  • Source: ISSN: 2045-2322.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
  • 1-10 of  319 نتائج ل ""Genetics""