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...

Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

The Journal of pediatrics, 2012-04, Vol.160 (4), p.645-650.e2

2012

Volltextzugriff (PDF)

The Routledge Handbook of Multilingualism

1, 2012

Volltextzugriff (PDF)

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

American journal of human genetics, 2018-10, Vol.103 (4), p.602-611

2018

Volltextzugriff (PDF)

Health Supervision for People With Achondroplasia

Pediatrics (Evanston), 2020-06, Vol.145 (6), p.1

2020

Volltextzugriff (PDF)

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2824-2828

2018

Volltextzugriff (PDF)

The Cost of Serious Fall-Related Injuries at Three Midwestern Hospitals

Joint Commission journal on quality and patient safety, 2011-02, Vol.37 (2), p.81-87

2011

Volltextzugriff (PDF)

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1272-1281

2018

Volltextzugriff (PDF)

Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1378-1383

2023

Volltextzugriff (PDF)

Multilingualism, Discourse and Ethnography

Multilingualism, Discourse, and Ethnography, 2012, Vol.3

1, 2012

Volltextzugriff (PDF)

Artificial Urinary Sphincter Complications: A Narrative Review

Journal of clinical medicine, 2024-04, Vol.13 (7), p.1913

2024

Volltextzugriff (PDF)

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

PLoS genetics, 2021-06, Vol.17 (6), p.e1009608-e1009608

2021

Volltextzugriff (PDF)

Researching Multilingualism: Critical and ethnographic perspectives

1, 2016

Volltextzugriff (PDF)

Memory Deficits after Resection from Left or Right Anterior Temporal Lobe in Humans: A Meta‐Analytic Review

Epilepsia (Copenhagen), 2002-03, Vol.43 (3), p.283-291

2002

Volltextzugriff (PDF)

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.946-951

2017

Volltextzugriff (PDF)

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246

2024

Volltextzugriff (PDF)

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

Volltextzugriff (PDF)

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review

Clinical dysmorphology, 2019-10, Vol.28 (4), p.175-183

2019

Volltextzugriff (PDF)

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.930-940

2023

Volltextzugriff (PDF)

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

Genetics in medicine, 2017-10, Vol.19 (10), p.1179-1183

2017

Volltextzugriff (PDF)

A fetal diagnostic center's referral rate for perinatal palliative care

Annals of palliative medicine, 2018-04, Vol.7 (2), p.177-185

2018

Volltextzugriff (PDF)

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.663-671

2015

Volltextzugriff (PDF)

The neuronal substrates of human olfactory based kin recognition

Human brain mapping, 2009-08, Vol.30 (8), p.2571-2580

2009

Volltextzugriff (PDF)

Risk factors for surgical site infection in spinal surgery

Journal of neurosurgery, 2003-03, Vol.98 (2 Suppl), p.149-155

2003

Volltextzugriff (PDF)

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.992-998

2016

Volltextzugriff (PDF)

Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children with Cleft Palate

The Cleft palate-craniofacial journal, 2017-11, Vol.54 (6), p.650-655

2017

Volltextzugriff (PDF)

1 – 25 von 1.198

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(868)
Mit Volltextzugriff
(927)

Publikationsform

5 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

The Routledge Handbook of Multilingualism

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Health Supervision for People With Achondroplasia

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

The Cost of Serious Fall-Related Injuries at Three Midwestern Hospitals

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature

Multilingualism, Discourse and Ethnography

Artificial Urinary Sphincter Complications: A Narrative Review

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Researching Multilingualism: Critical and ethnographic perspectives

Memory Deficits after Resection from Left or Right Anterior Temporal Lobe in Humans: A Meta‐Analytic Review

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

A fetal diagnostic center's referral rate for perinatal palliative care

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

The neuronal substrates of human olfactory based kin recognition

Risk factors for surgical site infection in spinal surgery

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children with Cleft Palate

Suchergebnisse filtern