Found: 23
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Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management.
- Published in:
- American Journal of Hematology, 2011, v. 86, n. 10, p. 827, doi. 10.1002/ajh.22118
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- Article
One Community's Effort to Control Genetic Disease.
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- American Journal of Public Health, 2012, v. 102, n. 7, p. 1300, doi. 10.2105/AJPH.2011.300569
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- Article
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0202104
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- Article
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6395, doi. 10.1093/hmg/ddu335
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- Article
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
- Published in:
- 2022
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- Publication type:
- journal article
Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
- Published in:
- BMC Genomics, 2005, v. 6, p. 138, doi. 10.1186/1471-2164-6-138
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- Article
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
- Published in:
- Nature Genetics, 2003, v. 34, n. 1, p. 91, doi. 10.1038/ng1147
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- Publication type:
- Article
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
- Published in:
- Laryngoscope, 2014, v. 124, n. 3, p. E95, doi. 10.1002/lary.24361
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- Article
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0028936
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- Publication type:
- Article
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 237, doi. 10.1038/ng998
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- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
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- 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
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- 2013
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- Publication type:
- journal article
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
- Published in:
- 2006
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- Publication type:
- journal article
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 9, p. 1, doi. 10.1371/journal.pgen.1009803
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- Publication type:
- Article
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
- Published in:
- 2015
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- Publication type:
- journal article
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1107, doi. 10.1093/brain/awu022
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- Article
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
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- 2022
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- Publication type:
- journal article
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1015, doi. 10.1002/humu.22843
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- Article
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1639, doi. 10.1002/humu.22237
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- Publication type:
- Article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
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- Article
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2119, doi. 10.1002/ajmg.a.62757
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- Article
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 821
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- Publication type:
- Article
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151261
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- Publication type:
- Article