Works matching AU Jamra, Rami Abou
Results: 47
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
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- Human Mutation, 2022, v. 43, n. 12, p. 1795, doi. 10.1002/humu.24451
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- Article
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability.
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- Human Mutation, 2015, v. 36, n. 2, p. 270, doi. 10.1002/humu.22737
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- Article
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.
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- Human Genetics, 2024, v. 143, n. 12, p. 1459, doi. 10.1007/s00439-024-02711-z
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- Article
Genetische Diagnostik im klinischen Alltag der Kinder- und Jugendpsychiatrie – Indikationen, Rahmenbedingungen, Hürden und Lösungsvorschläge.
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- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2024, v. 52, n. 1, p. 43, doi. 10.1024/1422-4917/a000941
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- Article
No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.
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- Human Genetics, 2003, v. 114, n. 1, p. 115, doi. 10.1007/s00439-003-1022-5
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- Article
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
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- Article
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1388
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- Article
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56876-w
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- Article
Mood-incongruent psychosis in bipolar disorder: conditional linkage analysis shows genome-wide suggestive linkage at 1q32.3, 7p13 and 20q13.31.
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- Bipolar Disorders, 2009, v. 11, n. 6, p. 610, doi. 10.1111/j.1399-5618.2009.00736.x
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- Article
The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.
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- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2719, doi. 10.1093/hmg/ddp204
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- Article
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder.
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- Human Molecular Genetics, 2008, v. 17, n. 1, p. 87
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- Article
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
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- Genes, 2023, v. 14, n. 1, p. 30, doi. 10.3390/genes14010030
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- Article
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
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- Genes, 2022, v. 13, n. 12, p. 2305, doi. 10.3390/genes13122305
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- Article
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.
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- European Journal of Endocrinology, 2019, v. 180, n. 1, p. K1, doi. 10.1530/EJE-18-0601
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- Article
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
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- Nature Communications, 2017, v. 8, n. 7, p. 15910, doi. 10.1038/ncomms15910
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- Article
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
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- Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
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- Article
De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity.
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- Molecular & Cellular Biology, 2024, v. 44, n. 11, p. 473, doi. 10.1080/10985549.2024.2391829
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- Article
A comprehensive global genotype-phenotype database for rare diseases.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 66, doi. 10.1002/mgg3.262
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- Article
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
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- Article
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
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- Article
Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
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- Clinical Genetics, 2021, v. 99, n. 4, p. 565, doi. 10.1111/cge.13916
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- Article
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853
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- Article
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 621, doi. 10.1111/cge.13720
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- Article
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3562, doi. 10.1093/brain/awae085
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- Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
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- 2022
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- Publication type:
- journal article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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- 2020
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- journal article
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
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- 2020
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- Publication type:
- journal article
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004320
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- Article
Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 965, doi. 10.1002/mdc3.13087
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- Article
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
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- Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
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- Article
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0509-9
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- Article
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies.
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- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08125-9
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- Article
The Role of Periodontal Ligament Cells in Delayed Tooth Eruption in Patients with Cleidocranial Dysostosis*.
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- Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2009, v. 70, n. 6, p. 495, doi. 10.1007/s00056-009-9934-x
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- Article
Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo<sup>D</sup> co-CRISPR selection with sgRNA target site masking.
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- Biology Methods & Protocols, 2022, v. 7, n. 1, p. 1, doi. 10.1093/biomethods/bpac003
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- Article
Brief Report: No Association Between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin.
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- Journal of Autism & Developmental Disorders, 2008, v. 38, n. 10, p. 1977, doi. 10.1007/s10803-008-0582-6
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- Publication type:
- Article
Genes and Schizophrenia: The G72/G30 Gene Locus in Psychiatric Disorders: A Challenge to Diagnostic Boundaries?
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- Schizophrenia Bulletin, 2006, v. 32, n. 4, p. 599
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- Publication type:
- Article
Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.
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- BMC Psychiatry, 2004, v. 4, p. 4, doi. 10.1186/1471-244X-4-4
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- Publication type:
- Article
Smooth velvety hyperextensible skin in a young patient.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 4, p. 504, doi. 10.1111/ddg.13480
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- Article
Samtig‐weiche hyperelastische Haut bei einem jungen Patienten.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 4, p. 504, doi. 10.1111/ddg.13480_g
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- Publication type:
- Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Article
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
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- Article
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
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- Publication type:
- Article
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
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- Molecular Syndromology, 2015, v. 6, n. 2, p. 58, doi. 10.1159/000371399
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- Publication type:
- Article
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2534, doi. 10.1002/ajmg.a.38345
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- Article
NDST1 missense mutations in autosomal recessive intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723
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- Article
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
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- Publication type:
- Article