Suchergebnisse - "Meier-Gorlin syndrome"

PubPharm (35)

1

DONSON : Slding in 2 the limelight

enthalten in: DNA repair | 2024

von Stewart, G.

2

The Origin Recognition Complex : From Origin Selection to Replication Licensing in Yeast and Humans

enthalten in: Biology | 2023

von Tye, B. | Zhai, Y.

3

DONSON is required for CMG helicase assembly in the mammalian cell cycle

enthalten in: EMBO reports | 2023

von Evrin, C. | Alvarez, V. | Ainsworth, J. | +3

4

Isolated frontosphenoidal craniosynostosis : An argument for genetic testing

enthalten in: American journal of medical genetics. Part A | 2023

von Hodapp, M. | Hing, A. | Gallagher, E. | +2

5

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly

enthalten in: European journal of medical genetics | 2023

von Sabbagh, Q. | Tharreau, M. | Cenni, C. | +12

6

Meier-Gorlin Syndrome : Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

enthalten in: International journal of molecular sciences | 2022

von Nazarenko, M. | Viakhireva, I. | Skoblov, M. | +3

7

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum

enthalten in: American journal of medical genetics. Part A | 2022

von Nerakh, G. | Vineeth, V. | Tallapaka, K. | +3

8

Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy : Six years follow-up of a rare case

enthalten in: Radiology case reports | 2022

von Vakili, R. | Mobini, M. | Hatami, F. | +2

9

An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature

in: Acta Medica Iranica | 2022

von Shahin Koomanaee | Setila Dalili | Seyyedeh Azade Hoseini Nouri | +4

10

Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of

in: International Journal of Molecular Sciences | 2022

von Maria S. Nazarenko | Iuliia V. Viakhireva | Mikhail Y. Skoblov | +3