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...

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical genetics, 2017-08, Vol.92 (2), p.166-171

2017

Volltextzugriff (PDF)

Clinical implementation of NIPT - technical and biological challenges

Clinical genetics, 2016-05, Vol.89 (5), p.523-530

2016

Volltextzugriff (PDF)

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Journal of dental research, 2017-11, Vol.96 (12), p.1386-1391

2017

Volltextzugriff (PDF)

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

American journal of neuroradiology : AJNR, 2013-06, Vol.34 (6), p.1257-1263

2013

Volltextzugriff (PDF)

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

Volltextzugriff (PDF)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

Volltextzugriff (PDF)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

Volltextzugriff (PDF)

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Cytogenetic and genome research, 2011-01, Vol.135 (3-4), p.251-259

2011

Volltextzugriff (PDF)

Do moose redistribute nutrients in low-productive fen systems?

Agriculture, ecosystems & environment, 2016-10, Vol.234, p.40-47

2016

Volltextzugriff (PDF)

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

European journal of medical genetics, 2014-09, Vol.57 (9), p.487-493

2014

Volltextzugriff (PDF)

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Prenatal diagnosis, 2013-12, Vol.33 (13), p.1283-1292

2013

Volltextzugriff (PDF)

Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

International journal of pediatric otorhinolaryngology, 2015-08, Vol.79 (8), p.1206-1212

2015

Volltextzugriff (PDF)

Aetiology of congenital hearing loss: A cohort review of 569 subjects

International journal of pediatric otorhinolaryngology, 2013-09, Vol.77 (9), p.1385-1391

2013

Volltextzugriff (PDF)

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

Clinical genetics, 2014-09, Vol.86 (3), p.207-216

2014

Volltextzugriff (PDF)

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

Cytogenetic and genome research, 2011-01, Vol.132 (3), p.135-143

2011

Volltextzugriff (PDF)

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Journal of intellectual disability research, 2007-09, Vol.51 (9), p.666-670

2007

Volltextzugriff (PDF)

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

BioMed research international, 2015-01, Vol.2015 (2015), p.1-8

2015

Volltextzugriff (PDF)

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

International journal of oral and maxillofacial surgery, 2017-10, Vol.46 (10), p.1338-1345

2017

Volltextzugriff (PDF)

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

Volltextzugriff (PDF)

The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

Volltextzugriff (PDF)

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

Journal of dental research, 2017-02, Vol.96 (2), p.179-185

2017

Volltextzugriff (PDF)

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Hormone research in paediatrics, 2015-01, Vol.83 (5), p.361-364

2015

Volltextzugriff (PDF)

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Molecular syndromology, 2012-06, Vol.3 (1), p.14-20

2012

Volltextzugriff (PDF)

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

The New England journal of medicine, 1998-04, Vol.338 (18), p.1317-1318

1998

Volltextzugriff (PDF)

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

Volltextzugriff (PDF)

1 – 25 von 327

Suche als RSS-Feed

Aktive Filter

ThemaLife Sciences & Biomedicine

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(288)
Mit Volltextzugriff
(268)

Publikationsform

Artikel
(327)

Sprache

Englisch
(327)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical implementation of NIPT - technical and biological challenges

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Do moose redistribute nutrients in low-productive fen systems?

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

Aetiology of congenital hearing loss: A cohort review of 569 subjects

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

The annual incidence of DiGeorge/velocardiofacial syndrome

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Aktive Filter

Suchergebnisse filtern