Found: 26
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Isolated sulfite oxidase deficiency: a founder mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900
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- Publication type:
- Article
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein.
- Published in:
- Reproductive Biology & Endocrinology, 2004, v. 2, p. 65, doi. 10.1186/1477-7827-2-65
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- Publication type:
- Article
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.
- Published in:
- Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/865170
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- Publication type:
- Article
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 978, doi. 10.1038/sj.ejhg.5201436
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- Publication type:
- Article
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 4, p. 444, doi. 10.1371/journal.pgen.0010047
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- Publication type:
- Article
Eugenic abortion: an ethical critique.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1991, v. 144, n. 1, p. 8
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- Publication type:
- Article
Survival of fetuses with abnormal karyotypes and cystic hygromas detected prenatally.
- Published in:
- Prenatal Diagnosis, 1990, v. 10, n. 2, p. 136, doi. 10.1002/pd.1970100213
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- Publication type:
- Article
The BOR syndrome and renal agenesis-prenatal diagnosis andfurther clinical delineation.
- Published in:
- Prenatal Diagnosis, 1988, v. 8, n. 2, p. 103, doi. 10.1002/pd.1970080204
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- Publication type:
- Article
Gonadal Dysgenesis With X-Monosomy in a Cynomolgus Monkey (Macaca fascicularis).
- Published in:
- American Journal of Primatology, 1990, v. 22, n. 1, p. 51, doi. 10.1002/ajp.1350220103
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- Publication type:
- Article
Family‐centred care interventions for children with chronic conditions: A scoping review.
- Published in:
- Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897
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- Publication type:
- Article
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 285, doi. 10.1038/6799
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- Publication type:
- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
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- Publication type:
- Article
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 38, doi. 10.1002/humu.20110
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- Publication type:
- Article
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations.
- Published in:
- Human Mutation, 1998, v. 12, n. 3, p. 141, doi. 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K
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- Publication type:
- Article
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
- Published in:
- Human Mutation, 1995, v. 5, n. 1, p. 28, doi. 10.1002/humu.1380050104
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- Publication type:
- Article
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
- Published in:
- 2017
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- Publication type:
- journal article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- 2005
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- Publication type:
- journal article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 711
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- Publication type:
- Article
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 3, p. 174, doi. 10.1111/j.1399-0004.1997.tb02448.x
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- Publication type:
- Article
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
- Published in:
- 2020
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- Publication type:
- journal article
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 312, doi. 10.1002/mgg3.206
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- Publication type:
- Article
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2311, doi. 10.1093/hmg/8.12.2311
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- Publication type:
- Article
Germline mosaicism in a female who seemed to be a carrier by sequence analysis.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2181
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- Publication type:
- Article
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 493
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- Publication type:
- Article
GLUT1 Deficiency Without Epilepsy: Yet Another Case.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 7, p. 832, doi. 10.1177/0883073808314896
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- Publication type:
- Article
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.
- Published in:
- Congenital Anomalies, 2007, v. 47, n. 4, p. 125, doi. 10.1111/j.1741-4520.2007.00160.x
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- Publication type:
- Article