Suchergebnisse - "Seckel-like syndrome"

PubPharm (3)

1

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

enthalten in: EBioMedicine | 2024

von Li, N. | Xu, Y. | Chen, H. | +19

2

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesResearch in context

in: EBioMedicine | 2024

von Niu Li | Yufei Xu | Hongzhu Chen | +19

3

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

enthalten in: American journal of medical genetics. Part A | 2019

von Karaca, E. | Posey, J. | Bostwick, B. | +12

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