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Academic Journal

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/genetics ; Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63791. Date of Electronic Publication: 2024 Jun 20.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

  • Authors : Margot H; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Pizano A

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/pathology ; Marfan Syndrome*/Marfan Syndrome*/Marfan Syndrome*/genetics

  • Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32087. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited

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Academic Journal

Clinical utility of investigations in triple-negative thrombocytosis: A real-world, multicentre evaluation of UK practice.

  • Authors : Godfrey AL; Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Sousos N

Subjects: Janus Kinase 2*/Janus Kinase 2*/Janus Kinase 2*/genetics ; Receptors, Thrombopoietin*/Receptors, Thrombopoietin*/Receptors, Thrombopoietin*/genetics; Humans

  • Source: British journal of haematology [Br J Haematol] 2024 Oct; Vol. 205 (4), pp. 1411-1416. Date of Electronic Publication: 2024 Jul 14.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Diagnostic findings and yield of investigations for children with developmental regression.

  • Authors : Furley K; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Children's Hospital, Melbourne, Australia.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/pathology

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63607. Date of Electronic Publication: 2024 Mar 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

  • Authors : Almenabawy N; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Hung C

Subjects: Niemann-Pick C1 Protein*/Niemann-Pick C1 Protein*/Niemann-Pick C1 Protein*/genetics ; Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/genetics ; Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/diagnosis

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63595. Date of Electronic Publication: 2024 Mar 29.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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  • 1-10 of  1,078,577 results for ""INVESTIGATIONS""