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Array comparative genomic hybridization in male infertility

Human reproduction (Oxford), 2012-03, Vol.27 (3), p.921-929

2012

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

Neurology, 2011-03, Vol.76 (11), p.988-992

2011

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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Human mutation, 2012-08, Vol.33 (8), p.1161-1165

2012

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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Acta anaesthesiologica Scandinavica, 2012-04, Vol.56 (4), p.520-525

2012

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Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

Reproductive biomedicine online, 2011-01, Vol.22 (1), p.65-71

2011

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Journal of medical genetics, 2004-02, Vol.41 (2), p.120-124

2004

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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

Journal of molecular medicine (Berlin, Germany), 2017-03, Vol.95 (3), p.299-309

2017

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Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Clinical genetics, 2011-11, Vol.80 (5), p.452-458

2011

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Preimplantation genetic diagnosis: current status and new developments

Human reproduction (Oxford), 1997-08, Vol.12 (8), p.1756-1761

1997

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Polymicrogyria with dysmorphic basal ganglia? Think tubulin

Clinical genetics, 2014-02, Vol.85 (2), p.178-183

2014

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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Clinical genetics, 2010-05, Vol.77 (5), p.474-482

2010

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Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

European journal of endocrinology, 2009-07, Vol.161 (1), p.207-210

2009

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Preimplantation genetic diagnosis for cancer predisposition syndromes

Prenatal diagnosis, 2007-05, Vol.27 (5), p.447-456

2007

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Novel universal approach for preimplantation genetic diagnosis of β‐thalassaemia in combination with HLA matching of embryos

Human reproduction (Oxford), 2004-03, Vol.19 (3), p.700-708

2004

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An unusual case of neonatal erythroderma

Archives of disease in childhood, 2011-04, Vol.96 (Suppl 1), p.A56-A56

2011

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Microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection: a new effective approach to infertility as a result of congenital bilateral absence of the vas deferens

Fertility and sterility, 1994-06, Vol.61 (6), p.1045-1051

1994

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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

Clinical genetics, 2011-09, Vol.80 (3), p.297-300

2011

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P5.41 ATP synthase deficiency: A diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.736-736

2011

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P3.26 Analysis of the Giant axonal neuropathy fibroblasts proteome

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.689-689

2011

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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

Journal of clinical pathology, 2009-02, Vol.62 (2), p.172-176

2009

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Aminoacylase I deficiency: A novel inborn error of metabolism

Biochemical and biophysical research communications, 2005-12, Vol.338 (3), p.1322-1326

2005

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Preimplantation genetic diagnosis for neurofibromatosis type 1

Molecular human reproduction, 2005-05, Vol.11 (5), p.381-387

2005

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The role of the testis-specific gene hTAF7L in the aetiology of male infertility

Molecular human reproduction, 2006-04, Vol.12 (4), p.263-267

2006

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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

American journal of medical genetics, 2003-07, Vol.120A (1), p.13-18

2003

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PGD for autosomal dominant polycystic kidney disease type 1

Molecular human reproduction, 2005-01, Vol.11 (1), p.65-71

2005

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Array comparative genomic hybridization in male infertility

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Preimplantation genetic diagnosis: current status and new developments

Polymicrogyria with dysmorphic basal ganglia? Think tubulin

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

Preimplantation genetic diagnosis for cancer predisposition syndromes

Novel universal approach for preimplantation genetic diagnosis of β‐thalassaemia in combination with HLA matching of embryos

An unusual case of neonatal erythroderma

Microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection: a new effective approach to infertility as a result of congenital bilateral absence of the vas deferens

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

P5.41 ATP synthase deficiency: A diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction

P3.26 Analysis of the Giant axonal neuropathy fibroblasts proteome

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

Aminoacylase I deficiency: A novel inborn error of metabolism

Preimplantation genetic diagnosis for neurofibromatosis type 1

The role of the testis-specific gene hTAF7L in the aetiology of male infertility

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

PGD for autosomal dominant polycystic kidney disease type 1

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