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...

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239

2024

Volltextzugriff (PDF)

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1703-n/a

2021

Volltextzugriff (PDF)

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Stroke (1970), 2021-10, Vol.52 (10), p.e624-e625

2021

Volltextzugriff (PDF)

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations

European journal of paediatric neurology, 2016-01, Vol.20 (1), p.164-167

2016

Volltextzugriff (PDF)

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Clinical genetics, 2023-12, Vol.104 (6), p.686-693

2023

Volltextzugriff (PDF)

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

American journal of human genetics, 2016-04, Vol.98 (4), p.735-743

2016

Volltextzugriff (PDF)

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Clinical genetics, 2020-11, Vol.98 (5), p.493-498

2020

Volltextzugriff (PDF)

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical Medicine Insights: Reproductive Health, 2014-01, Vol.2014 (2014), p.45-49

2014

Volltextzugriff (PDF)

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

European journal of medical genetics, 2013-07, Vol.56 (7), p.389-396

2013

Volltextzugriff (PDF)

False-negative results in routine combined first-trimester screening for down syndrome in Finland

American journal of perinatology, 2012-03, Vol.29 (3), p.211-216

2012

Volltextzugriff (PDF)

More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

Acta obstetricia et gynecologica Scandinavica, 2011-06, Vol.90 (6), p.642-647

2011

Volltextzugriff (PDF)

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004-04, Vol.126A (3), p.248-252

2004

Volltextzugriff (PDF)

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Human genetics, 2000-07, Vol.107 (1), p.83-85

2000

Volltextzugriff (PDF)

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

Volltextzugriff (PDF)

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

Volltextzugriff (PDF)

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical medicine insights. Reproductive health, 2014-07, Vol.2014 (8), p.45-49

2014

Volltextzugriff (PDF)

UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004, Vol.124A (3), p.248-252

2004

Volltextzugriff (PDF)

1 – 22 von 22

Suche als RSS-Feed

Aktive Filter

KollektionElsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)

ThemaMedical Genetics

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(19)
Mit Volltextzugriff
(20)

Publikationsform

Artikel
(22)

Sprache

Englisch
(22)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

False-negative results in routine combined first-trimester screening for down syndrome in Finland

More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresis

Aktive Filter

Suchergebnisse filtern