UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: A new syndrome?

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.90-90

Castro-Gago, Manuel

2009

Volltextzugriff (PDF)

Ohtahara syndrome and respiratory chain complex I deficiency

Brain & development (Tokyo. 1979), 2011-02, Vol.33 (2), p.177-177

2011

Volltextzugriff (PDF)

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1315-1322

2015

Volltextzugriff (PDF)

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1369-1373

2015

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

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

2009

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

Brain & development (Tokyo. 1979), 2016-01, Vol.38 (1), p.167-172

2016

Volltextzugriff (PDF)

Tratamiento de la deficiencia en colina cinasa beta con citicolina

Revista de neurologiá, 2018, Vol.67 (1), p.40

2018

Volltextzugriff (PDF)

Síndrome de Dravet y enfermedad mitocondrial, ¿patologías comórbidas?

Revista de neurologiá, 2015, Vol.60 (3), p.144

2015

Volltextzugriff (PDF)

Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

Revista de neurologiá, 2019, Vol.69 (12), p.492

2019

Volltextzugriff (PDF)

Análisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediátricos con epilepsia refractaria

Revista de neurologiá, 2016-07, Vol.63 (1), p.11

2016

Volltextzugriff (PDF)

Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29

Revista de neurologiá, 2015-09, Vol.61 (6), p.255

2015

Volltextzugriff (PDF)

Hashimoto Encephalopathy in a Preschool Girl

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

2010

Volltextzugriff (PDF)

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes

PloS one, 2011-04, Vol.6 (4), p.e18348-e18348

2011

Volltextzugriff (PDF)

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

Gaceta sanitaria, 2015-05, Vol.29 (3), p.213-216

2015

Volltextzugriff (PDF)

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Neuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.443-443

Castro-Gago, Manuel

2015

Volltextzugriff (PDF)

Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

Pediatric neurology, 2006-03, Vol.34 (3), p.204-211

2006

Volltextzugriff (PDF)

Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs

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

2007

Volltextzugriff (PDF)

Some Therapeutic Aspects in Pediatric Hydrocephalus

Academic journal of pediatric and neonatology, 2018-03, Vol.6 (4)

Gago, Manuel Castro

2018

Volltextzugriff (PDF)

Juvenile Xanthogranuloma of the Cauda Equina

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

2009

Volltextzugriff (PDF)

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

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

2006

Volltextzugriff (PDF)

Mutismo electivo y enfermedad mitocondrial: descripción de una nueva asociación

Revista de neurologiá, 2010-10, Vol.51 (7), p.444

2010

Volltextzugriff (PDF)

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

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

2017

Volltextzugriff (PDF)

1 – 25 von 161

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(144)
Mit Volltextzugriff
(149)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: A new syndrome?

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Ohtahara syndrome and respiratory chain complex I deficiency

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

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

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

Tratamiento de la deficiencia en colina cinasa beta con citicolina

Síndrome de Dravet y enfermedad mitocondrial, ¿patologías comórbidas?

Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

Análisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediátricos con epilepsia refractaria

Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29

Hashimoto Encephalopathy in a Preschool Girl

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs

Some Therapeutic Aspects in Pediatric Hydrocephalus

Juvenile Xanthogranuloma of the Cauda Equina

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

Mutismo electivo y enfermedad mitocondrial: descripción de una nueva asociación

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

Suchergebnisse filtern