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The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly
British Library Online Contents | 2019| -
Type VI syndactyly with skeletal dysplasia: a new syndrome?
British Library Online Contents | 2019| -
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients
British Library Online Contents | 2019| -
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly
British Library Online Contents | 2019| -
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
British Library Online Contents | 2019| -
Congenital lateral abdominal wall defect in two Congolese children
British Library Online Contents | 2019| -
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata
British Library Online Contents | 2018| -
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review
British Library Online Contents | 2018| -
Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa
British Library Online Contents | 2018| -
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy
British Library Online Contents | 2018| -
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
British Library Online Contents | 2019| -
Intrafamilial variability of clinical features in distal arthrogryposis type 2B
British Library Online Contents | 2019| -
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature
British Library Online Contents | 2019| -
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly
British Library Online Contents | 2018| -
Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome
British Library Online Contents | 2018| -
Left ventricular dysfunction in a patient with Angelman syndrome
British Library Online Contents | 2018| -
Intrafamilial variability of clinical features in distal arthrogryposis type 2B
British Library Online Contents | 2019| -
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
British Library Online Contents | 2019|