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...

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63629-n/a

2024

Volltextzugriff (PDF)

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1119-1127

2023

Volltextzugriff (PDF)

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3427-3432

2021

Volltextzugriff (PDF)

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

The Cleft palate-craniofacial journal, 2022-09, Vol.59 (9), p.1114-1124

2022

Volltextzugriff (PDF)

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Turk oftalmoloji gazetesi, 2021-04, Vol.51 (2), p.107-113

2021

Volltextzugriff (PDF)

A mutation screen in patients with Kabuki syndrome

Human genetics, 2011-12, Vol.130 (6), p.715-724

2011

Volltextzugriff (PDF)

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

American journal of human genetics, 2016-07, Vol.99 (1), p.236-245

2016

Volltextzugriff (PDF)

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Pediatric dermatology, 2020-03, Vol.37 (2), p.358-361

2020

Volltextzugriff (PDF)

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

Movement disorders clinical practice (Hoboken, N.J.), 2023-08, Vol.10 (S3), p.S48-S50

2023

Volltextzugriff (PDF)

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

Molecular syndromology, 2021-10, Vol.12 (6), p.335-341

2021

Volltextzugriff (PDF)

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

The journal of pediatric research, 2022-09, Vol.9 (3), p.297-301

2022

Volltextzugriff (PDF)

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics

The Turkish journal of pediatrics, 2023-01, Vol.65 (1), p.1-2

2023

Volltextzugriff (PDF)

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Journal of child neurology, 2021-09, Vol.36 (10), p.816-822

2021

Volltextzugriff (PDF)

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

European journal of medical genetics, 2024-04, Vol.68, p.104911-104911, Article 104911

2024

Volltextzugriff (PDF)

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

European journal of medical genetics, 2024-04, Vol.68, p.104924, Article 104924

2024

Volltextzugriff (PDF)

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist’s Perspective

Turk oftalmoloji gazetesi, 2016-12, Vol.46 (6), p.299-300

2016

Volltextzugriff (PDF)

Evaluation of polysomnography findings in children with genetic skeletal disorders

Journal of sleep research, 2023-10, Vol.32 (5), p.e13914-e13914

2023

Volltextzugriff (PDF)

Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?

Journal of paediatrics and child health, 2024-09

2024

Volltextzugriff (PDF)

Gorlin Syndrome in Eleven Patients

The journal of pediatric research, 2017-06, Vol.4 (2), p.63-67

2017

Volltextzugriff (PDF)

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

Neuropediatrics, 2024-06, Vol.55 (3), p.156-165

2024

Volltextzugriff (PDF)

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

Turkish journal of pediatrics, 2013-03, Vol.55 (2), p.207-209

2013

Volltextzugriff (PDF)

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

Molecular syndromology, 2024-08, Vol.15 (4), p.275-283

2024

Volltextzugriff (PDF)

Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism

Respiratory medicine, 2021-10, Vol.187, p.106567-106567, Article 106567

2021

Volltextzugriff (PDF)

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

European journal of paediatric neurology, 2021-05, Vol.32, p.46-55

2021

Volltextzugriff (PDF)

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Korean Journal of Family Medicine, 2017, 38(2), , pp.102-105

2017

Volltextzugriff (PDF)

1 – 25 von 139

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(122)
Mit Volltextzugriff
(121)

Publikationsform

Artikel
(126)
Berichte
(13)

Sprache

Englisch
(138)
Türkisch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

A mutation screen in patients with Kabuki syndrome

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist’s Perspective

Evaluation of polysomnography findings in children with genetic skeletal disorders

Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?

Gorlin Syndrome in Eleven Patients

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Suchergebnisse filtern