Suchergebnisse - "Anikster, Yair"

PubPharm (252)

1

Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

enthalten in: Molecular genetics and metabolism | 2023

von Himmelreich, N. | Bertoldi, M. | Alfadhel, M. | +47

ErratumFor: Mol Genet Metab. 2023 Jul;139(3):107624. - PMID 37348148

2

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

enthalten in: Molecular genetics and metabolism | 2023

von Himmelreich, N. | Bertoldi, M. | Alfadhel, M. | +47

ErratumIn: Mol Genet Metab. 2023 Aug;139(4):107647. - PMID 37453860

3

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy

enthalten in: Human genetics | 2023

von Marek-Yagel, D. | Stenke, E. | Pode-Shakked, B. | +10

4

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

enthalten in: EMBO molecular medicine | 2023

von Erdinc, D. | Rodríguez-Luis, A. | Fassad, M. | +30

5

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia

enthalten in: Journal of inherited metabolic disease | 2023

von Daas, S. | Abu Salah, N. | Anikster, Y. | +26

6

Hereditary orotic aciduria identified by newborn screening

enthalten in: Frontiers in genetics | 2023

von Staretz-Chacham, O. | Damseh, N. | Daas, S. | +21

7

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

enthalten in: EMBO Molecular Medicine | 2023

von Erdinc, D. | Rodríguez‐Luis, A. | Fassad, M. | +29

8

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

enthalten in: Journal of Inherited Metabolic Disease | 2023

von Daas, S. | Abu Salah, N. | Anikster, Y. | +26

9

Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes

enthalten in: Science translational medicine | 2022

von Jacoby, E. | Bar-Yosef, O. | Gruber, N. | +25

10

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Leslie, J. | Hjeij, R. | Vivante, A. | +26

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