Found: 62
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Array comparative genomic hybridization in male infertility.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A novel mitochondrial transfer RNA proline mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 853, doi. 10.1023/A:1026729223050
- By:
- Publication type:
- Article
Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 224, doi. 10.1023/A:1005347501111
- By:
- Publication type:
- Article
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 9, doi. 10.1023/A:1005351012066
- By:
- Publication type:
- Article
Molecular analysis in 23 Hunter disease families.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 453, doi. 10.1023/A:1005335624386
- By:
- Publication type:
- Article
The role of the testis-specific gene hTAF7L in the aetiology of male infertility.
- Published in:
- Molecular Human Reproduction, 2006, v. 12, n. 4, p. 263, doi. 10.1093/molehr/gal020
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis for neurofibromatosis type 1.
- Published in:
- Molecular Human Reproduction, 2005, v. 11, n. 5, p. 381, doi. 10.1093/molehr/gah170
- By:
- Publication type:
- Article
PGD for autosomal dominant polycystic kidney disease type 1.
- Published in:
- Molecular Human Reproduction, 2005, v. 11, n. 1, p. 65, doi. 10.1093/molehr/gah128
- By:
- Publication type:
- Article
Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the ΔF508 mutation.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 9, p. 559, doi. 10.1093/molehr/gag065
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis for Charcot–Marie–Tooth disease type 1A.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 7, p. 429, doi. 10.1093/molehr/gag054
- By:
- Publication type:
- Article
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 7, p. 691, doi. 10.1093/molehr/5.7.691
- By:
- Publication type:
- Article
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
- Published in:
- Molecular Human Reproduction, 1998, v. 4, n. 10, doi. 10.1093/molehr/4.10.978
- By:
- Publication type:
- Article
Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease).
- Published in:
- Molecular Human Reproduction, 1998, v. 4, n. 8, doi. 10.1093/molehr/4.8.791
- By:
- Publication type:
- Article
Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols.
- Published in:
- Molecular Human Reproduction, 1996, v. 2, n. 3, p. 209, doi. 10.1093/molehr/2.3.209
- By:
- Publication type:
- Article
Simultaneous amplification of the two most frequent mutations of infantile Tay—Sachs disease in single blastomeres.
- Published in:
- Molecular Human Reproduction, 1995, v. 1, n. 6, p. 314, doi. 10.1093/molehr/1.6.314
- By:
- Publication type:
- Article
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
- Published in:
- Clinical Genetics, 2014, v. 85, n. 2, p. 178, doi. 10.1111/cge.12141
- By:
- Publication type:
- Article
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 5, p. 452, doi. 10.1111/j.1399-0004.2010.01572.x
- By:
- Publication type:
- Article
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 297, doi. 10.1111/j.1399-0004.2011.01650.x
- By:
- Publication type:
- Article
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 5, p. 474, doi. 10.1111/j.1399-0004.2009.01313.x
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- Publication type:
- Article
Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.
- Published in:
- Clinical Genetics, 1993, v. 44, n. 6, p. 320, doi. 10.1111/j.1399-0004.1993.tb03908.x
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- Publication type:
- Article
Infantile presentation of the mitochondrial A8344G mutation.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Clinical application of preimplantation genetic diagnosis for cystic fibrosis.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 13, p. 1223, doi. 10.1002/(SICI)1097-0223(199912)19:13<1223::AID-PD724>3.0.CO;2-0
- By:
- Publication type:
- Article
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 13, p. 1427, doi. 10.1002/(SICI)1097-0223(199812)18:13<1427::AID-PD493>3.0.CO;2-3
- By:
- Publication type:
- Article
Clinical application of preimplantation diagnosis for myotonic dystrophy.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 10, p. 925, doi. 10.1002/(SICI)1097-0223(199710)17:10<925::AID-PD178>3.0.CO;2-4
- By:
- Publication type:
- Article
Polymerase chain reaction analysis of the cystic fibrosis delta F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier.
- Published in:
- 1993
- By:
- Publication type:
- journal article
β-Glucuronidase activity in mouse oocytes, mouse preimplantation embryos, and human gametes.
- Published in:
- Prenatal Diagnosis, 1991, v. 11, n. 8, p. 509, doi. 10.1002/pd.1970110805
- By:
- Publication type:
- Article
β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.
- Published in:
- Prenatal Diagnosis, 1991, v. 11, n. 6, p. 405, doi. 10.1002/pd.1970110612
- By:
- Publication type:
- Article
Prenatal diagnosis of Hunter syndrome using fetal plasma.
- Published in:
- 1988
- By:
- Publication type:
- journal article
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi.
- Published in:
- 1987
- By:
- Publication type:
- journal article
Is β-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?
- Published in:
- Human & Experimental Toxicology, 2008, v. 27, n. 5, p. 431, doi. 10.1177/0960327108094614
- By:
- Publication type:
- Article
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.
- Published in:
- Acta Anaesthesiologica Scandinavica, 2012, v. 56, n. 4, p. 520, doi. 10.1111/j.1399-6576.2011.02628.x
- By:
- Publication type:
- Article
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.
- Published in:
- European Journal of Endocrinology, 2009, v. 161, n. 1, p. 207, doi. 10.1530/EJE-09-0257
- By:
- Publication type:
- Article
The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis.
- Published in:
- Human Reproduction Update, 2000, v. 6, n. 4, p. 364, doi. 10.1093/humupd/6.4.364
- By:
- Publication type:
- Article
Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis.
- Published in:
- Acta Neuropathologica, 1993, v. 85, n. 6, p. 674, doi. 10.1007/BF00334680
- By:
- Publication type:
- Article
β-N-Acetythexosaminidase activity in mouse oocytes and preimplantation embryos.
- Published in:
- Human Reproduction, 1991, v. 6, n. 2, p. 280
- By:
- Publication type:
- Article
Array comparative genomic hybridization in male infertility.
- Published in:
- Human Reproduction, 2012, v. 27, n. 3, p. 921, doi. 10.1093/humrep/der440
- By:
- Publication type:
- Article
Novel universal approach for preimplantation genetic diagnosis of β‐thalassaemia in combination with HLA matching of embryos.
- Published in:
- Human Reproduction, 2004, v. 19, n. 3, p. 700, doi. 10.1093/humrep/deh153
- By:
- Publication type:
- Article
Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.
- Published in:
- Human Reproduction, 1998, v. 13, n. suppl_1, p. 186, doi. 10.1093/humrep/13.suppl_1.186
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis: current status and new developments.
- Published in:
- Human Reproduction, 1997, v. 12, n. 8, p. 1756, doi. 10.1093/humrep/12.8.1756
- By:
- Publication type:
- Article
Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos.
- Published in:
- 1994
- By:
- Publication type:
- journal article
β-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
- Published in:
- Human Reproduction, 1992, v. 7, n. 9, p. 1278
- By:
- Publication type:
- Article
Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Preimplantation diagnosis.
- Published in:
- Human Reproduction, 1992, v. 7, n. suppl_1, p. 107
- By:
- Publication type:
- Article