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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 91, doi. 10.1007/s004390100461
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- Publication type:
- Article
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41651-6
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- Publication type:
- Article
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
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- Nature Reviews Genetics, 2013, v. 14, n. 10, p. 681, doi. 10.1038/nrg3555
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- Publication type:
- Article
OP168 Costs And Effectiveness Of Whole Exome Sequencing (WES) In Patients With Unsolved Rare Disease Through The Diagnostic Pathway.
- Published in:
- 2023
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- Publication type:
- Abstract
The Deep Genome Project.
- Published in:
- 2020
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- Publication type:
- Editorial
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 990, doi. 10.1038/ejhg.2014.236
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- Publication type:
- Article
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
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- Publication type:
- Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
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- Publication type:
- Article
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
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- Annals of Neurology, 2022, v. 91, n. 5, p. 730, doi. 10.1002/ana.26275
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- Publication type:
- Article
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
- Published in:
- Nature, 2011, v. 477, n. 7363, p. 211, doi. 10.1038/nature10353
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- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.
- Published in:
- Genetics, 2020, v. 215, n. 4, p. 1055, doi. 10.1534/genetics.120.303399
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- Publication type:
- Article
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
- Published in:
- Genetics, 2017, v. 207, n. 4, p. 1501, doi. 10.1534/genetics.117.300137
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- Publication type:
- Article
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 9, doi. 10.1534/genetics.117.203067
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- Publication type:
- Article
Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms.
- Published in:
- 2014
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- Publication type:
- Opinion
International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases.
- Published in:
- EMBO Molecular Medicine, 2019, v. 11, n. 5, p. 1, doi. 10.15252/emmm.201910486
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- Publication type:
- Article
Genome-wide sequencing technologies: A primer for paediatricians.
- Published in:
- Paediatrics & Child Health (1205-7088), 2018, v. 23, n. 3, p. 191, doi. 10.1093/pch/pxx152
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- Publication type:
- Article
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97
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- Publication type:
- Article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0254-x
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- Publication type:
- Article
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 458, doi. 10.1002/ajmg.c.31662
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- Publication type:
- Article
Unsolved recognizable patterns of human malformation: Challenges and opportunities.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 382, doi. 10.1002/ajmg.c.31665
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- Publication type:
- Article
Nablus syndrome: Easy to diagnose yet difficult to solve.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
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- Publication type:
- Article
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935
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- Publication type:
- Article
p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618
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- Publication type:
- Article
Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 601, doi. 10.1111/cge.13523
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- Publication type:
- Article
Precision medicine in rare diseases: What is next?
- Published in:
- Journal of Internal Medicine, 2023, v. 294, n. 4, p. 397, doi. 10.1111/joim.13655
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- Publication type:
- Article
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059
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- Publication type:
- Article
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211031059
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- Publication type:
- Article
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
- Published in:
- 2017
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- Publication type:
- journal article
Loss-of-function mutations in a calcium-channel α<sub>1</sub>-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 264, doi. 10.1038/947
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- Publication type:
- Article
The defining DNA methylation signature of Floating-Harbor Syndrome.
- Published in:
- Scientific Reports, 2016, p. 38803, doi. 10.1038/srep38803
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- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
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- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
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- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A generalizable pre-clinical research approach for orphan disease therapy.
- Published in:
- 2012
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- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
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- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
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- Publication type:
- Article
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 67, doi. 10.1186/1750-1172-7-67
- By:
- Publication type:
- Article
A generalizable pre-clinical research approach for orphan disease therapy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 39, doi. 10.1186/1750-1172-7-39
- By:
- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1
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- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7
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- Publication type:
- Article
The role of the clinician in the multi-omics era: are you ready?
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
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- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
- Published in:
- Nature Communications, 2024, v. 15, p. 1, doi. 10.1038/s41467-023-41651-6
- By:
- Publication type:
- Article
Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
- Published in:
- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 691, doi. 10.1017/S0012162205001404
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- Publication type:
- Article
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-36
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- Publication type:
- Article