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...

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Nature genetics, 2005-10, Vol.37 (10), p.1035-1037

2005

Volltextzugriff (PDF)

Menkes disease in affected females: The clinical disease spectrum

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.417-420

2015

Volltextzugriff (PDF)

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography: A Predictor of Visual Acuity?

Ophthalmology (Rochester, Minn.), 2011-08, Vol.118 (8), p.1653-1660

2011

Volltextzugriff (PDF)

Homozygous mutations in ARIX ( PHOX2A ) result in congenital fibrosis of the extraocular muscles type 2

Nature genetics, 2001-11, Vol.29 (3), p.315-320

2001

Volltextzugriff (PDF)

Clinical characterization of the HOXA1 syndrome BSAS variant

Neurology, 2007-09, Vol.69 (12), p.1245-1253

2007

Volltextzugriff (PDF)

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

JAMA ophthalmology, 2024-03, Vol.142 (3), p.243

2024

Volltextzugriff (PDF)

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature genetics, 2017-04, Vol.49 (4), p.606-612

2017

Volltextzugriff (PDF)

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1664-1682

2017

Volltextzugriff (PDF)

Magnetic Resonance Imaging Evidence For Widespread Orbital Dysinnervation in Congenital Fibrosis of Extraocular Muscles Due to Mutations in KIF21A

Investigative ophthalmology & visual science, 2005-02, Vol.46 (2), p.530-539

2005

Volltextzugriff (PDF)

The clinical spectrum of homozygous HOXA1 mutations

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1235-1240

2008

Volltextzugriff (PDF)

Human disorders of axon guidance

Current opinion in neurobiology, 2012-10, Vol.22 (5), p.837-843

2012

Volltextzugriff (PDF)

Nuclear IMPDH Filaments in Human Gliomas

Journal of neuropathology and experimental neurology, 2021-10, Vol.80 (10), p.944-954

2021

Volltextzugriff (PDF)

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

Developmental biology, 2022-10, Vol.490, p.126-133

2022

Volltextzugriff (PDF)

Ambiguity Aversion and Portfolio Choice in Small-Scale Peruvian Farming

The B.E. journal of economic analysis & policy, 2011-01, Vol.11 (1), p.1

2011

Volltextzugriff (PDF)

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

Ophthalmology (Rochester, Minn.), 2022-06, Vol.129 (6), p.708-718

2022

Volltextzugriff (PDF)

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

Investigative ophthalmology & visual science, 2007-12, Vol.48 (12), p.5505-5511

2007

Volltextzugriff (PDF)

Inability to move one's face dampens facial expression perception

Cortex, 2023-12, Vol.169, p.35-49

2023

Volltextzugriff (PDF)

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

Neurology, 2006-08, Vol.67 (3), p.519-521

2006

Volltextzugriff (PDF)

Applications of Molecular Genetics to the Understanding of Congenital Ocular Motility Disorders

Annals of the New York Academy of Sciences, 2002-04, Vol.956 (1), p.55-63

ENGLE, ELIZABETH C.

2002

Volltextzugriff (PDF)

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

Genetics in medicine, 2019-12, Vol.21 (12), p.2734-2743

2019

Volltextzugriff (PDF)

Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease

Neuron (Cambridge, Mass.), 2010-10, Vol.68 (2), p.245-253

2010

Volltextzugriff (PDF)

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

Annals of neurology, 1997-03, Vol.41 (3), p.314-325

1997

Volltextzugriff (PDF)

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis

Investigative ophthalmology & visual science, 2018-10, Vol.59 (12), p.5201-5209

2018

Volltextzugriff (PDF)

26 – 50 von 1.634

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.392)
Mit Volltextzugriff
(1.274)

Publikationsform

5 weitere anzeigen...

Weniger anzeigen...

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(888)
Life Sciences & Biomedicine
(737)
Humans
(436)
Female
(279)
Male
(256)
Biological And Medical Sciences
(254)
Animals
(230)
Medical Sciences
(142)
Adult
(132)
Physical Sciences
(131)
Fundamental And Applied Biological Sciences. Psychology
(130)
Middle Aged
(93)
Agriculture
(90)
Child
(75)
Environmental Sciences & Ecology
(75)
Mice
(74)
Chemistry
(69)
Adolescent
(65)
Technology
(64)
Mutation
(62)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(22)
... seit 30 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Menkes disease in affected females: The clinical disease spectrum

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography: A Predictor of Visual Acuity?

Homozygous mutations in ARIX ( PHOX2A ) result in congenital fibrosis of the extraocular muscles type 2

Clinical characterization of the HOXA1 syndrome BSAS variant

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

Biallelic mutations in human DCC cause developmental split-brain syndrome

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

Magnetic Resonance Imaging Evidence For Widespread Orbital Dysinnervation in Congenital Fibrosis of Extraocular Muscles Due to Mutations in KIF21A

The clinical spectrum of homozygous HOXA1 mutations

Human disorders of axon guidance

Nuclear IMPDH Filaments in Human Gliomas

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

Ambiguity Aversion and Portfolio Choice in Small-Scale Peruvian Farming

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

Inability to move one's face dampens facial expression perception

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

Applications of Molecular Genetics to the Understanding of Congenital Ocular Motility Disorders

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis

Suchergebnisse filtern