UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 37

Sortiert nach

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome

Scientific reports, 2017-01, Vol.7 (1), p.40031-40031, Article 40031

2017

Link zum Volltext

Verfügbarkeit prüfen

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.416-421

2011

Link zum Volltext

Verfügbarkeit prüfen

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3101-3106

2010

Link zum Volltext

Verfügbarkeit prüfen

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

Molecular cytogenetics, 2014-11, Vol.7 (1), p.86-86, Article 86

2014

Link zum Volltext

Verfügbarkeit prüfen

Pseudoachondroplasia: Descriptions of a de novo and familial case

Anales de Pediatría, 2018-07, Vol.89 (1), p.60-61

2018

Link zum Volltext

Verfügbarkeit prüfen

Seudoacondroplasia: descripción de un caso de novo y otro familiar

Anales de pediatría (Barcelona, Spain : 2003), 2018-07, Vol.89 (1), p.60-61

2018

Link zum Volltext

Verfügbarkeit prüfen

Van der Woude Syndrome and Lower Lip Pits Treatment

Journal of oral and maxillofacial surgery, 2008-03, Vol.66 (3), p.589-592

2008

Link zum Volltext

Verfügbarkeit prüfen

Mosaicismo diploide/triploide: un fenotipo variable, pero característico

Revista de neurologiá, 2014, Vol.59 (4), p.158

2014

Link zum Volltext

Verfügbarkeit prüfen

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

Human molecular genetics, 2013-01, Vol.22 (1), p.124-139

2013

Link zum Volltext

Verfügbarkeit prüfen

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

Clinical genetics, 2024-02, Vol.105 (2), p.140-149

2024

Link zum Volltext

Verfügbarkeit prüfen

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Scientific reports, 2019-08, Vol.9 (1), p.11983-9, Article 11983

2019

Link zum Volltext

Verfügbarkeit prüfen

Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation

Annals of neurology, 2001-11, Vol.50 (5), p.692-692

2001

Link zum Volltext

Verfügbarkeit prüfen

Ethical deliberations on genetic testing in children and adolescents

Revista de neurologiá, 2013-09, Vol.57 (5), p.237-239

2013

Link zum Volltext

Verfügbarkeit prüfen

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2105-2111

2011

Link zum Volltext

Verfügbarkeit prüfen

Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity

Archives of dermatology (1960), 2009-05, Vol.145 (5), p.576

2009

Link zum Volltext

Verfügbarkeit prüfen

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion

Human mutation, 2003-01, Vol.21 (1), p.8-11

2003

Link zum Volltext

Verfügbarkeit prüfen

Diploid/triploid mosaicism: a variable but characteristic phenotype

Revista de neurologiá, 2014-08, Vol.59 (4), p.158-163

2014

Link zum Volltext

Verfügbarkeit prüfen

Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion

Pediatric blood & cancer, 2010-03, Vol.54 (3), p.480-482

2010

Link zum Volltext

Verfügbarkeit prüfen

Pseudoachondroplasia: Descriptions of a de novo and familial case

Anales de Pediatría, 2018-07, Vol.89 (1), p.60-61

2018

Link zum Volltext

Verfügbarkeit prüfen

White matter alterations associated with chromosomal disorders

Developmental medicine and child neurology, 2004-03, Vol.46 (3), p.148-153

2004

Link zum Volltext

Verfügbarkeit prüfen

Deliberación ética sobre los tests genéticos en niños y adolescentes

Revista de neurologiá, 2013, Vol.57 (5), p.237

2013

Link zum Volltext

Verfügbarkeit prüfen

White matter alterations associated with chromosomal disorders

Developmental medicine and child neurology, 2004-03, Vol.46 (3), p.148-153

2004

Link zum Volltext

Verfügbarkeit prüfen

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK³ dene deletion

Human mutation, 2003-01, Vol.21 (1), p.8

2003

Link zum Volltext

Verfügbarkeit prüfen

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

Human genetics, 1994-09, Vol.94 (3), p.283-286

1994

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 37

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(34)

Publikationsform

Artikel
(35)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

Pseudoachondroplasia: Descriptions of a de novo and familial case

Seudoacondroplasia: descripción de un caso de novo y otro familiar

Van der Woude Syndrome and Lower Lip Pits Treatment

Mosaicismo diploide/triploide: un fenotipo variable, pero característico

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Front Cover

Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation

Ethical deliberations on genetic testing in children and adolescents

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion

Diploid/triploid mosaicism: a variable but characteristic phenotype

Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion

Pseudoachondroplasia: Descriptions of a de novo and familial case

White matter alterations associated with chromosomal disorders

Deliberación ética sobre los tests genéticos en niños y adolescentes

White matter alterations associated with chromosomal disorders

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK³ dene deletion

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

Suchergebnisse filtern