Found: 28
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Hyperketonaemia in glycerol kinase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 760, doi. 10.1023/A:1005680211483
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- Publication type:
- Article
Isolated and contiguous glycerol kinase gene disorders: A review.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 529, doi. 10.1023/A:1005660826652
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- Publication type:
- Article
Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 276, doi. 10.1023/A:1005380525218
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- Article
NONDESTRUCTIVE INSPECTION.
- Published in:
- SAMPE Journal, 2020, v. 56, n. 3, p. 42
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- Publication type:
- Article
Symptomatology of patients with oligodontia.
- Published in:
- Journal of Oral Rehabilitation, 1994, v. 21, n. 3, p. 247, doi. 10.1111/j.1365-2842.1994.tb01141.x
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- Publication type:
- Article
Copy number changes of the microcephalin 1 gene ( MCPH1) in patients with autism spectrum disorders.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 4, p. 348, doi. 10.1111/j.1399-0004.2009.01254.x
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- Publication type:
- Article
Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias.
- Published in:
- European Journal of Neurology, 2000, v. 7, n. 3, p. 309, doi. 10.1046/j.1468-1331.2000.00067.x
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- Publication type:
- Article
Minor physical anomalies in autism: a meta-analysis.
- Published in:
- Molecular Psychiatry, 2010, v. 15, n. 3, p. 300, doi. 10.1038/mp.2008.75
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- Publication type:
- Article
Early diagnosis of bilateral retinoblastoma reduces death and blindness.
- Published in:
- International Journal of Cancer, 1989, v. 44, n. 1, p. 35, doi. 10.1002/ijc.2910440107
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- Publication type:
- Article
Non-ocular cancer in patients with hereditary retinoblastoma and their relatives.
- Published in:
- International Journal of Cancer, 1988, v. 41, n. 4, p. 499, doi. 10.1002/ijc.2910410405
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- Publication type:
- Article
Isozyme pattern of enolase of childhood tumors.
- Published in:
- 1984
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- Publication type:
- journal article
Restrictive dermopathy and fetal behaviour.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 7, p. 581, doi. 10.1002/pd.89
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- Publication type:
- Article
Prenatal diagnosis in adenylosuccinate lyase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Failure to detect fetal obstructive uropathy by second trimester ultrasound.
- Published in:
- 1985
- By:
- Publication type:
- journal article
QUOTE-geneCA: development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.
- Published in:
- 2005
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- Publication type:
- Journal Article
Predictive Value of Morphological Features in Patients with Autism versus Normal Controls.
- Published in:
- Journal of Autism & Developmental Disorders, 2013, v. 43, n. 1, p. 147, doi. 10.1007/s10803-012-1554-4
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- Publication type:
- Article
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 713, doi. 10.1038/sj.ejhg.5200367
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- Publication type:
- Article
A complex haemoglobinopathy diagnosis in a family with both β<sup>o</sup>- and α<sup>o/+</sup>-thalassaemia homozygosity.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 163, doi. 10.1038/sj.ejhg.5200281
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- Publication type:
- Article
Rothmund-Thomson syndrome.
- Published in:
- British Journal of Dermatology, 1991, v. 125, n. 3, p. 279
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- Publication type:
- Article
Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?
- Published in:
- 2005
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- Publication type:
- journal article
The cerebro-costo-mandibular syndrome: third report of familial occurrence.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 2, p. 118, doi. 10.1111/j.1399-0004.1985.tb00370.x
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- Publication type:
- Article
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43).
- Published in:
- Clinical Genetics, 1985, v. 27, n. 5, p. 515, doi. 10.1111/j.1399-0004.1985.tb00242.x
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- Publication type:
- Article
Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome.
- Published in:
- Clinical Genetics, 1985, v. 27, n. 1, p. 92, doi. 10.1111/j.1399-0004.1985.tb00190.x
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- Publication type:
- Article
Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 4, p. 379, doi. 10.1111/j.1399-0004.1984.tb01075.x
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- Publication type:
- Article
Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333).
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 209, doi. 10.1111/j.1399-0004.1984.tb04369.x
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- Publication type:
- Article
Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 3, p. 295, doi. 10.1111/j.1399-0004.1984.tb01992.x
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- Publication type:
- Article
Letter to the Editors.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 3, p. 151, doi. 10.1111/j.1399-0004.1983.tb02229.x
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- Publication type:
- Article
Letter to the Editors.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 2, p. 151, doi. 10.1111/j.1399-0004.1983.tb02227.x
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- Publication type:
- Article