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Copy number variation analysis of patients with intellectual disability from North-West Spain

Gene, 2017-08, Vol.626, p.189-199

2017

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Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients

Brain & development (Tokyo. 1979), 2009-02, Vol.31 (2), p.184-184

2009

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Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

Brain & development (Tokyo. 1979), 2009-04, Vol.31 (4), p.322-325

2009

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Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3113-3120

2015

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Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome

Acta Paediatrica, 2006-11, Vol.95 (11), p.1510-1511

2006

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A Xq21.31 duplication without features of Prader–Willi syndrome

Endocrine, 2013-02, Vol.43 (1), p.238-238

2013

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Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

Hormones (Athens, Greece), 2017-04, Vol.16 (2), p.194-199

2017

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Intrathecal baclofen for progressive neurological disease in children

European journal of paediatric neurology, 2013-01, Vol.17 (1), p.116-116

2013

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The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

Journal of Child Neurology, 2011-12, Vol.26 (12), p.1522-1524

2011

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Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism and Migraine

Journal of Child Neurology, 2012-04, Vol.27 (4), p.544-544

2012

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Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine

Journal of child neurology, 2010-01, Vol.25 (1), p.32-35

2010

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16p11.2 microdeletion associated to early onset benign childhood seizures

Revista de neurologiá, 2013-01, Vol.56 (2), p.125

2013

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Abnormal myelination in Angelman syndrome

European journal of paediatric neurology, 2010-05, Vol.14 (3), p.292-292

2010

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Microdeletion 2q23.1 and syndromic findings

Revista de neurologiá, 2013-11, Vol.57 (9), p.430

2013

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Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

Journal of child neurology, 2011-06, Vol.26 (6), p.734-737

2011

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Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: A late onset variant of PCH-1?

European journal of paediatric neurology, 2009-09, Vol.13 (5), p.473-473

2009

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Respiratory chain deficiency in Aicardi–Goutières syndrome

Developmental medicine and child neurology, 2006-08, Vol.48 (8), p.701-701

2006

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Hashimoto Encephalopathy in a Preschool Girl

Pediatric neurology, 2010-02, Vol.42 (2), p.143-146

2010

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Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH

Journal of clinical research in pediatric endocrinology, 2011, Vol.3 (4), p.208-211

2011

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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

Cytogenetic and genome research, 2023, Vol.163 (5-6), p.301-306

2023

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Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs

Pediatric neurology, 2007-12, Vol.37 (6), p.426-430

2007

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Muscle Myostatin Expression in Children With Muscle Diseases

Journal of child neurology, 2007-01, Vol.22 (1), p.38-40

2007

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Growth in children and adolescents with mitochondrial diseases

Journal of pediatric neurology, 2011-12, Vol.9 (4), p.435-439

2011

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Levels of leptin, insulin, IGF-I, IGFBP-3, IL-6 and IL-8 in sera of patients with muscular dystrophy and mitochondrial encephalomyopathy

Journal of pediatric neurology, 2010-12, Vol.8 (4), p.375-379

2010

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Juvenile Xanthogranuloma of the Cauda Equina

Pediatric neurology, 2009-02, Vol.40 (2), p.123-125

2009

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Copy number variation analysis of patients with intellectual disability from North-West Spain

Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome

A Xq21.31 duplication without features of Prader–Willi syndrome

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

Intrathecal baclofen for progressive neurological disease in children

The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity

Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism and Migraine

Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine

16p11.2 microdeletion associated to early onset benign childhood seizures

Abnormal myelination in Angelman syndrome

Microdeletion 2q23.1 and syndromic findings

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: A late onset variant of PCH-1?

Respiratory chain deficiency in Aicardi–Goutières syndrome

Hashimoto Encephalopathy in a Preschool Girl

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH

Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs

Muscle Myostatin Expression in Children With Muscle Diseases

Growth in children and adolescents with mitochondrial diseases

Levels of leptin, insulin, IGF-I, IGFBP-3, IL-6 and IL-8 in sera of patients with muscular dystrophy and mitochondrial encephalomyopathy

Juvenile Xanthogranuloma of the Cauda Equina

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