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Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes

Journal of intellectual disability research, 2010-03, Vol.54 (3), p.204-215

2010

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Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

British journal of dermatology (1951), 2014-04, Vol.170 (4), p.901-906

2014

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Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

Psychological medicine, 2010-03, Vol.40 (3), p.487-495

2010

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Calpainopathy—A Survey of Mutations and Polymorphisms

American journal of human genetics, 1999-06, Vol.64 (6), p.1524-1540

1999

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.732-742

2005

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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

Neurology, 2003-06, Vol.60 (11), p.1811

2003

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Expression-based, consistent biomarkers for prognosis and diagnosis in lung cancer

Clinical & translational oncology, 2020-10, Vol.22 (10), p.1867-1874

2020

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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

Annals of neurology, 1999-02, Vol.45 (2), p.182-188

1999

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)

Brain (London, England : 1878), 1998-09, Vol.121 (9), p.1735-1747

1998

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Current diagnosis and treatment of Castleman's disease

Revista clínica espanõla (English edition), 2016-04, Vol.216 (3), p.146-156

2016

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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

American journal of human genetics, 1994-03, Vol.54 (3), p.414-423

1994

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Role of apolipoprotein E epsilon 4 allele on chronic allograft nephropathy after renal transplantation

Transplantation proceedings, 2004-12, Vol.36 (10), p.2982-2984

2004

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Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation

Neuromuscular disorders : NMD, 2002, Vol.12 (1), p.4-12

2002

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Effect of serum phosphate on parathyroid hormone secretion during hemodialysis

Kidney international, 1998-12, Vol.54 (6), p.2140-2145

1998

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Enfermedad de Behçet y pioderma gangrenoso refractario a terapia convencional con respuesta a infliximab

Revista clínica espanõla, 2015-01, Vol.215 (1), p.66-67

2015

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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy

Journal of medical genetics, 1995-02, Vol.32 (2), p.105-108

1995

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TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

Nephrology, dialysis, transplantation, 2009-10, Vol.24 (10), p.3089-3096

2009

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Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

Journal of medical genetics, 1995-09, Vol.32 (9), p.689-691

1995

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Frequency of myotonic dystrophy gene carriers in cataract patients

Journal of medical genetics, 1996-03, Vol.33 (3), p.221-223

1996

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Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

Genetic epidemiology, 1996, Vol.13 (5), p.483-487

1996

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Sex-related difference in intergenerational expansion of myotonic dystrophy gene

The Lancet (British edition), 1993-05, Vol.341 (8853), p.1159-1160

1993

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A propósito de un caso: cuerpos extraños en colon en un servicio de urgencias de un hospital comarcal

Semergen, medicina de familia, 2016-10, Vol.42 (7), p.e138-e139

2016

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USE OF ADAPTIVE CONTROL ALGORITHMS FOR AUTOMATIC CALIBRATION OF ELECTROHYDRAULIC ACTUATOR CONTROL

Applied engineering in agriculture, 2001-05, Vol.17 (3)

2001

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Reproductive counselling for women with myotonic dystrophy

Journal of medical genetics, 2002-03, Vol.39 (3), p.e15-15

2002

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CNS response to osimertinib vs standard of care (SoC) EGFR-TKI as first-line therapy in patients (pts) with EGFR-TKI sensitising mutation (EGFRm)-positive advanced non-small cell lung cancer (NSCLC): Data from the FLAURA study

Annals of oncology, 2017-11, Vol.28 (suppl_10), p.x189-x189

2017

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Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

Calpainopathy—A Survey of Mutations and Polymorphisms

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

Expression-based, consistent biomarkers for prognosis and diagnosis in lung cancer

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)

Current diagnosis and treatment of Castleman's disease

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

Role of apolipoprotein E epsilon 4 allele on chronic allograft nephropathy after renal transplantation

Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation

Effect of serum phosphate on parathyroid hormone secretion during hemodialysis

Enfermedad de Behçet y pioderma gangrenoso refractario a terapia convencional con respuesta a infliximab

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

Frequency of myotonic dystrophy gene carriers in cataract patients

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

Sex-related difference in intergenerational expansion of myotonic dystrophy gene

A propósito de un caso: cuerpos extraños en colon en un servicio de urgencias de un hospital comarcal

USE OF ADAPTIVE CONTROL ALGORITHMS FOR AUTOMATIC CALIBRATION OF ELECTROHYDRAULIC ACTUATOR CONTROL

Reproductive counselling for women with myotonic dystrophy

CNS response to osimertinib vs standard of care (SoC) EGFR-TKI as first-line therapy in patients (pts) with EGFR-TKI sensitising mutation (EGFRm)-positive advanced non-small cell lung cancer (NSCLC): Data from the FLAURA study

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