Suchergebnisse - "Rötig, A"

PubPharm (237)

1

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

enthalten in: Clinical genetics | 2017

von Nambot, S. | Gavrilov, D. | Thevenon, J. | +18

2

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to Data Sharing of whole exome sequencing data

enthalten in: Clinical genetics | 2017

von Nambot, S. | Gavrilov, D. | Thevenon, J. | +18

3

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

enthalten in: Clinical genetics | 2017

von Nambot, S. | Gavrilov, D. | Thevenon, J. | +18

4

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

enthalten in: American journal of human genetics | 2017

von Habarou, F. | Hamel, Y. | Haack, T. | +29

5

Brain imaging in mitochondrial respiratory chain deficiency : combination of brain MRI features as a useful tool for genotype/phenotype correlations

enthalten in: Journal of medical genetics | 2014

von Bricout, M. | Grévent, D. | Lebre, A. | +8

6

Séquençage, exome et maladies mitochondriales

enthalten in: Archives de pédiatrie | 2014

von Rötig, A. | Rio, M. | Munnich, A.

7

Genetics of mitochondrial respiratory chain deficiencies

enthalten in: Revue neurologique | 2014

von Rötig, A.

8

Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations

enthalten in: Revue neurologique | 2014

von Devaux-Bricout, M. | Grévent, D. | Lebre, A. | +8

9

Génétique des déficits de la chaîne respiratoire mitochondriale

enthalten in: Revue neurologique | 2014

von Rötig, A.

10

Aspect en IRM cérébrale des maladies mitochondriales. Algorithme décisionnel des maladies mitochondriales les plus fréquentes

enthalten in: Revue neurologique | 2014

von Devaux-Bricout, M. | Grévent, D. | Lebre, A. | +8

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