Found: 37
Select item for more details and to access through your institution.
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131
- By:
- Publication type:
- Article
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399
- By:
- Publication type:
- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1639, doi. 10.15252/emmm.201404829
- By:
- Publication type:
- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 795, doi. 10.1002/emmm.201303235
- By:
- Publication type:
- Article
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 6, p. 841, doi. 10.1111/epi.12560
- By:
- Publication type:
- Article
A novel pedigree with familial cortical myoclonic tremor and epilepsy ( FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1298, doi. 10.1111/epi.12216
- By:
- Publication type:
- Article
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8604, doi. 10.3390/ijms21228604
- By:
- Publication type:
- Article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
- By:
- Publication type:
- Article
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 608, doi. 10.1002/ajmg.a.62001
- By:
- Publication type:
- Article
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2395, doi. 10.1002/ajmg.a.40478
- By:
- Publication type:
- Article
Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3258, doi. 10.1002/ajmg.a.37873
- By:
- Publication type:
- Article
New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
- By:
- Publication type:
- Article
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2559, doi. 10.1002/ajmg.a.36035
- By:
- Publication type:
- Article
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3211, doi. 10.1002/ajmg.a.35656
- By:
- Publication type:
- Article
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 917, doi. 10.1002/ajmg.a.35265
- By:
- Publication type:
- Article
Deletion of 4q13.2q21.1 Chromosome and Autism Spectrum Disorder.
- Published in:
- Journal of Pediatric Neurosciences, 2022, v. 17, n. 2, p. 131, doi. 10.4103/jpn.JPN_98_21
- By:
- Publication type:
- Article
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01422-6
- By:
- Publication type:
- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
- By:
- Publication type:
- Article
Characterization of BRCA Deficiency in Ovarian Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 5, p. 1530, doi. 10.3390/cancers15051530
- By:
- Publication type:
- Article
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 753, doi. 10.1038/ejhg.2014.165
- By:
- Publication type:
- Article
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
- Published in:
- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
- By:
- Publication type:
- Article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- 2020
- By:
- Publication type:
- journal article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514
- By:
- Publication type:
- Article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
- By:
- Publication type:
- Article
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
- Published in:
- Genome Biology, 2013, v. 14, n. 10, p. 3, doi. 10.1186/gb-2013-14-10-r120
- By:
- Publication type:
- Article
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
- Published in:
- Molecular Diagnosis & Therapy, 2020, v. 24, n. 5, p. 571, doi. 10.1007/s40291-020-00488-1
- By:
- Publication type:
- Article
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
- By:
- Publication type:
- Article
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2746, doi. 10.1093/hmg/ddv034
- By:
- Publication type:
- Article
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070
- By:
- Publication type:
- Article
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1
- By:
- Publication type:
- Article
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0097-0
- By:
- Publication type:
- Article
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 3, doi. 10.1186/1824-7288-40-39
- By:
- Publication type:
- Article
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
- By:
- Publication type:
- Article
Long read sequencing on its way to the routine diagnostics of genetic diseases.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1374860
- By:
- Publication type:
- Article
EX-HOM (EXome HOMozygosity): A Proof of Principle.
- Published in:
- Human Heredity, 2011, v. 72, n. 1, p. 45, doi. 10.1159/000330164
- By:
- Publication type:
- Article