Suchergebnisse - "Meinecke, Peter"

PubPharm (84)

1

TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2023

von Holling, T. | Brylka, L. | Scholz, T. | +6

2

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

enthalten in: Nature | 2023

von Mensah, M. | Niskanen, H. | Magalhaes, A. | +37

3

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

enthalten in: Nature | 2023

von Mensah, M. | Niskanen, H. | Magalhaes, A. | +37

4

Cardiofacioneurodevelopmental syndrome : Report of a novel patient and expansion of the phenotype

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

von Abdalla, E. | Alawi, M. | Meinecke, P. | +2

5

Cardiofacioneurodevelopmental syndrome : Report of a novel patient and expansion of the phenotype

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Abdalla, E. | Alawi, M. | Meinecke, P. | +2

6

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

enthalten in: American journal of human genetics | 2020

von Schneeberger, P. | von Elsner, L. | Barker, E. | +10

7

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

enthalten in: Cell calcium | 2020

von Xu, L. | Harms, F. | Chirasani, V. | +6

8

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

9

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 C: Seminars in Medical Genetics | 2019

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

10

Acute Liver Failure Meets SOPH Syndrome : A Case Report on an Intermediate Phenotype

enthalten in: Pediatrics | 2017

von Kortüm, F. | Marquardt, I. | Alawi, M. | +4

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