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...

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene

Clinical genetics, 2018-06, Vol.93 (6), p.1223-1228

2018

Volltextzugriff (PDF)

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

Clinical genetics, 2018-03, Vol.93 (3), p.632-639

2018

Volltextzugriff (PDF)

RASopathies: Clinical Diagnosis in the First Year of Life

Molecular syndromology, 2011-09, Vol.1 (6), p.282-289

2011

Volltextzugriff (PDF)

Metabolic and symbiotic interactions in amino acid pools of the pea aphid, Acyrthosiphon pisum, parasitized by the braconid Aphidius ervi

Journal of insect physiology, 2002-05, Vol.48 (5), p.507-516

2002

Volltextzugriff (PDF)

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Clinical genetics, 2018-03, Vol.93 (3), p.675-681

2018

Volltextzugriff (PDF)

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Clinical genetics, 2019-02, Vol.95 (2), p.268-276

2019

Volltextzugriff (PDF)

Congenital heart defects in the recurrent 2q13 deletion syndrome

European journal of medical genetics, 2022-01, Vol.65 (1), p.104381-104381, Article 104381

2022

Volltextzugriff (PDF)

Do interactions between plant roots and the rhizosphere affect parasitoid behaviour? [Erratum: 2005 Feb., v. 30, no. 1, p. 128.]

Ecological entomology, 2004-12, Vol.29 (6), p.753-756

2004

Volltextzugriff (PDF)

Genetic insight in vein of Galen aneurysmal malformation

Italian Journal of Gynaecology and Obstetrics, 2023-01, Vol.35 (Supplement 01), p.121

2023

Volltextzugriff (PDF)

Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.760-763

2014

Volltextzugriff (PDF)

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2842-2844

2008

Volltextzugriff (PDF)

Congenital Heart Disease and Genetic Syndromes: Specific Correlation Between Cardiac Phenotype and Genotype

Cardiovascular Pathology, 2000, Vol.9 (6), p.303-315

2000

Volltextzugriff (PDF)

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

Human mutation, 2002-03, Vol.19 (3), p.308-308

2002

Volltextzugriff (PDF)

Pea aphid clonal resistance to the endophagous parasitoid Aphidius ervi

Journal of insect physiology, 2002-10, Vol.48 (10), p.971-980

2002

Volltextzugriff (PDF)

Absorption of sugars and amino acids by the epidermis of Aphidius ervi larvae

Journal of insect physiology, 2003-12, Vol.49 (12), p.1115-1124

2003

Volltextzugriff (PDF)

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

Cytogenetic and genome research, 2008-01, Vol.121 (3-4), p.215-221

2008

Volltextzugriff (PDF)

Congenital Heart Disease and Genetic Syndromes

Cardiovascular pathology, 2000-11, Vol.9 (6), p.303-315

2000

Volltextzugriff (PDF)

Host regulation effects of ovary fluid and venom of Aphidius ervi (Hymenoptera: Braconidae)

Journal of insect physiology, 1998-09, Vol.44 (9), p.779-784

1998

Volltextzugriff (PDF)

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

Cytogenetic and genome research, 2005-01, Vol.111 (2), p.182-185

2005

Volltextzugriff (PDF)

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

Pediatric cardiology, 2001-11, Vol.22 (6), p.509-511

2001

Volltextzugriff (PDF)

Development and nutrition of the braconid wasp, Aphidius ervi in Aposymbiotic host aphids

Archives of insect biochemistry and physiology, 1999, Vol.40 (1), p.53-63

1999

Volltextzugriff (PDF)

The Heart in Ras-MAPK Pathway Disorders

Noonan Syndrome and Related Disorders - a Matter of Deregulated Ras Signaling, 2008, Vol.17, p.109-118

2008

Volltextzugriff (PDF)

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

Molecular and cellular probes, 2002-08, Vol.16 (4), p.315-318

2002

Volltextzugriff (PDF)

LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis

Noonan Syndrome and Related Disorders - a Matter of Deregulated Ras Signaling, 2008, Vol.17, p.55-65

2008

Volltextzugriff (PDF)

Genotype-Phenotype Correlations in Noonan Syndrome

Noonan Syndrome and Related Disorders - a Matter of Deregulated Ras Signaling, 2008, Vol.17, p.40-54

2008

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(31)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(31)
Buchkapitel
(3)

Sprache

Englisch
(34)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(23)
Science & Technology
(23)
Humans
(15)
Genetics & Heredity
(12)
Female
(7)
Male
(7)
Phenotype
(7)
Entomology
(6)
Aphidius Ervi
(5)
Braconidae
(5)
Child
(5)
Chromosome Deletion
(5)
Infant
(5)
Physiology
(5)
Aphidiinae
(4)
Heart Defects, Congenital - Genetics
(4)
Syndrome
(4)
Zoology
(4)
Abnormalities, Multiple - Genetics
(3)
Acyrthosiphon Pisum
(3)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

RASopathies: Clinical Diagnosis in the First Year of Life

Metabolic and symbiotic interactions in amino acid pools of the pea aphid, Acyrthosiphon pisum, parasitized by the braconid Aphidius ervi

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Congenital heart defects in the recurrent 2q13 deletion syndrome

Do interactions between plant roots and the rhizosphere affect parasitoid behaviour? [Erratum: 2005 Feb., v. 30, no. 1, p. 128.]

Genetic insight in vein of Galen aneurysmal malformation

Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

Congenital Heart Disease and Genetic Syndromes: Specific Correlation Between Cardiac Phenotype and Genotype

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

Pea aphid clonal resistance to the endophagous parasitoid Aphidius ervi

Absorption of sugars and amino acids by the epidermis of Aphidius ervi larvae

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

Congenital Heart Disease and Genetic Syndromes

Host regulation effects of ovary fluid and venom of Aphidius ervi (Hymenoptera: Braconidae)

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

Development and nutrition of the braconid wasp, Aphidius ervi in Aposymbiotic host aphids

The Heart in Ras-MAPK Pathway Disorders

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis

Genotype-Phenotype Correlations in Noonan Syndrome

Suchergebnisse filtern