Found: 52
Select item for more details and to access through your institution.
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
- By:
- Publication type:
- Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-126
- By:
- 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
- By:
- 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
- By:
- 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
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- 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
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
- By:
- 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
- By:
- 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 novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase ( YARS) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 126, doi. 10.1002/ajmg.a.37973
- By:
- Publication type:
- Article
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 183, doi. 10.1002/ajmg.a.38010
- By:
- Publication type:
- Article
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1820, doi. 10.1002/ajmg.a.37684
- By:
- Publication type:
- Article
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 531, doi. 10.1002/ajmg.a.37402
- By:
- Publication type:
- Article
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2867, doi. 10.1002/ajmg.a.37270
- By:
- Publication type:
- Article
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1654, doi. 10.1002/ajmg.a.37067
- By:
- Publication type:
- Article
The defining DNA methylation signature of Floating-Harbor Syndrome.
- Published in:
- Scientific Reports, 2016, p. 38803, doi. 10.1038/srep38803
- 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
- By:
- 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
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle.
- Published in:
- Nature, 1988, v. 333, n. 6172, p. 466, doi. 10.1038/333466a0
- By:
- Publication type:
- Article
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 10, p. 681, doi. 10.1038/nrg3555
- By:
- Publication type:
- Article
A century later Farabee has his mutation.
- Published in:
- 2005
- By:
- Publication type:
- Letter
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 368, doi. 10.1007/s00439-002-0815-2
- By:
- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
- By:
- Publication type:
- Article
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- Publication type:
- Article
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1112, doi. 10.1038/ejhg.2009.18
- By:
- Publication type:
- Article
An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225656
- By:
- Publication type:
- Article
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02297-7
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
- By:
- Publication type:
- Article
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1966, doi. 10.1093/hmg/ddr077
- By:
- Publication type:
- Article
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 42, doi. 10.3390/ijns9030042
- By:
- Publication type:
- Article
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
- By:
- Publication type:
- Article
Mutations in GDF5 presenting as semidominant brachydactyly A1.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1155, doi. 10.1002/humu.21338
- By:
- Publication type:
- Article
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
- Published in:
- CMAJ Open, 2021, v. 9, n. 3, p. E802, doi. 10.9778/cmajo.20200294
- By:
- Publication type:
- Article
A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation.
- Published in:
- Neurology & Therapy, 2020, v. 9, n. 1, p. 187, doi. 10.1007/s40120-020-00186-4
- By:
- Publication type:
- Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Large deletions account for an increasing number of mutations in SGCE.
- Published in:
- Movement Disorders, 2008, v. 23, n. 3, p. 456, doi. 10.1002/mds.21895
- By:
- Publication type:
- Article
Refinement of the DYT15 locus in myoclonus dystonia.
- Published in:
- Movement Disorders, 2007, v. 22, n. 6, p. 888, doi. 10.1002/mds.21400
- By:
- Publication type:
- Article
Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.
- Published in:
- Movement Disorders, 2006, v. 21, n. 7, p. 906, doi. 10.1002/mds.20820
- By:
- Publication type:
- Article
Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 172, doi. 10.1002/humu.1380010216
- By:
- Publication type:
- Article
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 5, p. 491, doi. 10.1017/cjn.2019.228
- By:
- Publication type:
- Article
CACNA1A Mutation in a EA-2 Patient Responsive to Acetazolamide and Vaiproic Acid.
- Published in:
- Canadian Journal of Neurological Sciences, 2006, v. 33, n. 1, p. 68, doi. 10.1017/S0317167100004728
- By:
- Publication type:
- Article
Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1.
- Published in:
- Journal of Gastroenterology & Hepatology, 2013, v. 28, n. 3, p. 560, doi. 10.1111/j.1440-1746.2012.07290.x
- By:
- Publication type:
- Article
Phenotype Variation and Newcomers in Ion Channel Disorders.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 10, p. 1679, doi. 10.1093/hmg/6.10.1679
- By:
- Publication type:
- Article
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 279
- By:
- Publication type:
- Article
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 737
- By:
- Publication type:
- Article
Genomic organization of exons 22 to 25 of the dystrophin gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 593
- By:
- Publication type:
- Article