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Academic Journal

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

  • Authors : Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy.

  • Source: Epilepsia [Epilepsia] 2024 Jul 02. Date of Electronic Publication: 2024 Jul 02.Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

  • Authors : Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CTt, 06032, USA.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/pathology ; Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics

  • Source: Cell death & disease [Cell Death Dis] 2024 May 30; Vol. 15 (5), pp. 379. Date of Electronic Publication: 2024 May 30.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.

  • Authors : Wannan CMJ; Centre for Youth Mental Health, The University of Melbourne, Parkville, VIC, Australia.; Orygen, Parkville, VIC, Australia.

Subjects: Psychotic Disorders* ; Schizophrenia*; Humans

  • Source: Schizophrenia bulletin [Schizophr Bull] 2024 Apr 30; Vol. 50 (3), pp. 496-512.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0236760 Publication Model: Print Cited Medium: Internet ISSN:

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

  • Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 26. Date of Electronic Publication: 2024 Jan 26.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

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Report

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.

  • Authors : Rabin R; Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.; Hirsch Y

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Cleft Lip*/Cleft Lip*/Cleft Lip*/diagnosis Radioulnar Synostosis

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3110-3117. Date of Electronic Publication: 2022 Aug 09.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individuals.

  • Authors : Argote M; PSYR, CNRL, INSERM U1028, CNRS UMR5292, UCBL1, Bron, France.; Université Claude Bernard Lyon 1, Lyon, France.

  • Source: EClinicalMedicine [EClinicalMedicine] 2023 Sep 08; Vol. 64, pp. 102199. Date of Electronic Publication: 2023 Sep 08 (Print Publication: 2023).Publisher: The Lancet Country of Publication: England NLM ID: 101733727 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5370

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Academic Journal

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

  • Authors : Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.

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

  • Source: Genes [Genes (Basel)] 2023 May 29; Vol. 14 (6). Date of Electronic Publication: 2023 May 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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  • 1-10 of  10,854 results for ""Rabin R""