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Assouline, Zahra
40  Ergebnisse:
Personensuche X
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1

Novel ELAC2 Mutations in Individuals Presenting with Variab..:

Cafournet, Cérane ; Zanin, Sofia ; Guimier, Anne...
Life.  13 (2023)  2 - p. 445 , 2023
Link: https://doi.org/10.3390/..
 
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2

Impaired complex I repair causes recessive Leber's heredita..:

Stenton, Sarah L. ; Sheremet, Natalia L. ; Catarino, Claudia B....
Journal of Clinical Investigation.  131 (2021)  6 - p. , 2021
Link: https://doi.org/10.1172/..
 
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3

A retrospective study on the efficacy of prenatal diagnosis..:

Steffann, Julie ; Monnot, Sophie ; Magen, Maryse...
Genetics in Medicine.  23 (2021)  4 - p. 720-731 , 2021
Link: https://doi.org/10.1038/..
 
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4

Evidence of diaphragmatic dysfunction with severe alveolar ..:

Barcia, Giulia ; Khirani, Sonia ; Amaddeo, Alessandro...
Neuromuscular Disorders.  30 (2020)  7 - p. 593-598 , 2020
Link: https://doi.org/10.1016/..
 
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5

Biallelic IARS2 mutations presenting as sideroblastic anemi:

Barcia, Giulia ; Pandithan, Dinusha ; Ruzzenente, Benedetta...
Haematologica.  , 2020
Link: https://doi.org/10.3324/..
 
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6

The natural history of infantile mitochondrial DNA depletio..:

Keshavan, Nandaki ; Abdenur, Jose ; Anderson, Glenn...
Genetics in Medicine.  22 (2020)  1 - p. 199-209 , 2020
Link: https://doi.org/10.1038/..
 
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7

Novel FARS2 variants in patients with early onset encephalo..:

Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra...
European Journal of Human Genetics.  29 (2020)  3 - p. 533-538 , 2020
Link: https://doi.org/10.1038/..
 
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8

Expanding and Underscoring the Hepato‐Encephalopathic Pheno..:

Russell, Bianca E. ; Whaley, Kaitlin G. ; Bove, Kevin E....
Hepatology.  70 (2019)  3 - p. 1066-1070 , 2019
Link: https://doi.org/10.1002/..
 
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9

Cytochrome c oxidase deficiency caused by biallelic SCO2 mu..:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports.  21 (2019)  - p. 100528 , 2019
Link: https://doi.org/10.1016/..
 
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10

Mitochondrial myopathy plus due to the variant m.586G > A i..:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports.  21 (2019)  - p. 100522 , 2019
Link: https://doi.org/10.1016/..
 
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11

Expanding the clinical spectrum of MTTF mutations:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports.  21 (2019)  - p. 100501 , 2019
Link: https://doi.org/10.1016/..
 
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12

Pitfalls in molecular diagnosis of Friedreich ataxia:

Barcia, Giulia ; Rachid, Myriam ; Magen, Maryse...
European Journal of Medical Genetics.  61 (2018)  8 - p. 455-458 , 2018
Link: https://doi.org/10.1016/..
 
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13

Complex I assembly factor TMEM126B mutations result in musc..:

Sánchez-Caballero, Laura ; Ruzzenente, Benedetta ; Bianchi, Lucas...
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1857 (2016)  - p. e31-e32 , 2016
Link: https://doi.org/10.1016/..
 
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14

Mutations in GTPBP3 Cause a Mitochondrial Translation Defec..:

Kopajtich, Robert ; Nicholls, Thomas J. ; Rorbach, Joanna...
The American Journal of Human Genetics.  95 (2014)  6 - p. 708-720 , 2014
Link: https://doi.org/10.1016/..
 
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15

Maternal uniparental disomy of chromosome 2 in a patient wi..:

Haudry, Coralie ; de Lonlay, Pascale ; Malan, Valerie...
Molecular Genetics and Metabolism.  107 (2012)  4 - p. 700-704 , 2012
Link: https://doi.org/10.1016/..
 
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