UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 53

Sortiert nach

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1261-1272

2023

Volltextzugriff (PDF)

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

The Laryngoscope, 2022-08, Vol.132 (8), p.1548-1554

2022

Volltextzugriff (PDF)

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.410-416

2019

Volltextzugriff (PDF)

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1168-1174

2021

Volltextzugriff (PDF)

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2763-2771

2017

Volltextzugriff (PDF)

Best practices in peri‐operative management of patients with skeletal dysplasias

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2584-2595

2017

Volltextzugriff (PDF)

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Genetics in medicine, 2021-08, Vol.23 (8), p.1498-1505

2021

Volltextzugriff (PDF)

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

Autism research, 2020-07, Vol.13 (7), p.1227-1238

2020

Volltextzugriff (PDF)

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

PLoS genetics, 2010-05, Vol.6 (6), p.e1000991-e1000991

2010

Volltextzugriff (PDF)

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.522-522, Article 522

2021

Volltextzugriff (PDF)

The characterization of twenty sequenced human genomes

PLoS genetics, 2010-09, Vol.6 (9), p.e1001111

2010

Volltextzugriff (PDF)

Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2110-2112

2013

Volltextzugriff (PDF)

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.669-680

2009

Volltextzugriff (PDF)

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias

Quality of life research, 2017-05, Vol.26 (5), p.1337-1348

2017

Volltextzugriff (PDF)

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

American journal of obstetrics and gynecology, 2018-12, Vol.219 (6), p.545-562

2018

Volltextzugriff (PDF)

Medicare Beneficiaries With Self-Reported Functional Hearing Difficulty Have Unmet Health Care Needs

Health affairs (Millwood, Va.), 2021-05, Vol.40 (5), p.786-4A

2021

Volltextzugriff (PDF)

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Genetics in medicine, 2023-07, Vol.25 (7), p.100845, Article 100845

2023

Volltextzugriff (PDF)

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

Journal of neurosurgery. Pediatrics, 2023-12, Vol.32 (6), p.649

2023

Volltextzugriff (PDF)

Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older

JAMA network open, 2023-07, Vol.6 (7), p.e2326320-e2326320

2023

Volltextzugriff (PDF)

Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery

Journal of neurosurgery. Pediatrics, 2017-07, Vol.20 (1), p.91

2017

Volltextzugriff (PDF)

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

Journal of autism and developmental disorders, 2019-05, Vol.49 (5), p.2184-2202

2019

Volltextzugriff (PDF)

Age-appropriate body mass index in children with achondroplasia : interpretation in relation to indexes of height

The American journal of clinical nutrition, 2008-08, Vol.88 (2), p.364-371

2008

Volltextzugriff (PDF)

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2293-2297

2008

Volltextzugriff (PDF)

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Genome research, 2011-10, Vol.21 (10), p.1720

2011

Volltextzugriff (PDF)

Genomic analysis of partial 21q monosomies with variable phenotypes

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.235-238

2011

Volltextzugriff (PDF)

1 – 25 von 53

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(52)
Mit Volltextzugriff
(46)

Publikationsform

Artikel
(53)

Sprache

Englisch
(53)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Best practices in peri‐operative management of patients with skeletal dysplasias

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

The characterization of twenty sequenced human genomes

Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

Medicare Beneficiaries With Self-Reported Functional Hearing Difficulty Have Unmet Health Care Needs

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older

Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

Age-appropriate body mass index in children with achondroplasia : interpretation in relation to indexes of height

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Genomic analysis of partial 21q monosomies with variable phenotypes

Suchergebnisse filtern