UB Paderborn / Katalog / Suche / in CDI

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Nature (London), 2018-05, Vol.557 (7706), p.564-569

2018

Link zum Volltext

Verfügbarkeit prüfen

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Clinical genetics, 2023-07, Vol.104 (1), p.100-106

2023

Link zum Volltext

Verfügbarkeit prüfen

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.10-14

2014

Link zum Volltext

Verfügbarkeit prüfen

Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters

Joint, bone, spine : revue du rhumatisme, 2023-07, Vol.90 (4), p.105547-105547, Article 105547

2023

Link zum Volltext

Verfügbarkeit prüfen

Albright's Hereditary Osteodystrophy: an Entity to Recognize

Rheumatology (Oxford, England), 2022-11, Vol.61 (11), p.e356-e357

2022

Link zum Volltext

Verfügbarkeit prüfen

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Nature genetics, 2014-01, Vol.46 (1), p.70-76

2014

Link zum Volltext

Verfügbarkeit prüfen

Expanding the skeletal phenotype of Loeys-Dietz syndrome

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1178-1183

2011

Link zum Volltext

Verfügbarkeit prüfen

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Human molecular genetics, 2023-04, Vol.32 (9), p.1429-1438

2023

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

Link zum Volltext

Verfügbarkeit prüfen

Fibrodysplasia ossificans progressiva: when a double skeleton is present

Clinical rheumatology, 2023-11, Vol.42 (11), p.3173-3174

2023

Link zum Volltext

Verfügbarkeit prüfen

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-293, Article 293

2022

Link zum Volltext

Verfügbarkeit prüfen

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.219-219, Article 219

2023

Link zum Volltext

Verfügbarkeit prüfen

Optimising care and follow-up of adults with achondroplasia

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-318, Article 318

2022

Link zum Volltext

Verfügbarkeit prüfen

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.539-546

2010

Link zum Volltext

Verfügbarkeit prüfen

Pachydysostosis of the fibula in a case of familial adenomatous polyposis

European journal of medical genetics, 2024-04, Vol.68, p.104913, Article 104913

2024

Link zum Volltext

Verfügbarkeit prüfen

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2129-2132

2020

Link zum Volltext

Verfügbarkeit prüfen

Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype

American journal of medical genetics. Part C, Seminars in medical genetics, 2024-06, p.e32089-e32089

2024

Link zum Volltext

Verfügbarkeit prüfen

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Advances in therapy, 2024-05

2024

Link zum Volltext

Verfügbarkeit prüfen

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Advances in therapy, 2024, Vol.41 (1), p.198-214

2024

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters

Albright's Hereditary Osteodystrophy: an Entity to Recognize

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Expanding the skeletal phenotype of Loeys-Dietz syndrome

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

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

Phenotype and genotype in Nicolaides-Baraitser syndrome

Fibrodysplasia ossificans progressiva: when a double skeleton is present

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Optimising care and follow-up of adults with achondroplasia

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

Pachydysostosis of the fibula in a case of familial adenomatous polyposis

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)

Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Suchergebnisse filtern