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Spodenkiewicz, Marta
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1

3q29 duplications: A cohort of 46 patients and a literature..:

Massier, Marie ; Doco‐Fenzy, Martine ; Egloff, Matthieu...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Prenatal and neonatal phenotype of Larsen of La Réunion Isl..:

Alessandri, Jean-Luc ; Celse, Tristan ; Spodenkiewicz, Marta...
European Journal of Medical Genetics.  69 (2024)  - p. 104940 , 2024
Link: https://doi.org/10.1016/..
 
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3

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1184-1205 , 2024
Link: https://doi.org/10.1016/..
 
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4

Compound genetic etiology in a patient with a syndrome incl..:

Le Collen, Lauriane ; Delemer, Brigitte ; Spodenkiewicz, Marta...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Clinical and genomic delineation of the new proximal 19p13...:

Jouret, Guillaume ; Egloff, Matthieu ; Landais, Emilie...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 52-63 , 2022
Link: https://doi.org/10.1002/..
 
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6

Adult diagnosis of Townes–Brocks syndrome with renal failur..:

Beaudoux, Olivia ; Lebre, Anne‐Sophie ; Doco Fenzy, Martine...
American Journal of Medical Genetics Part A.  185 (2021)  3 - p. 937-944 , 2021
Link: https://doi.org/10.1002/..
 
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7

A large extended family with hyperparathyroidism-jaw tumor ..:

Le Collen, Lauriane ; Barraud, Sara ; Braconnier, Antoine...
Endocrine.  73 (2021)  3 - p. 693-701 , 2021
Link: https://doi.org/10.1007/..
 
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8

Adult‐onset diagnosis of urea cycle disorders: Results of a..:

Toquet, Ségolène ; Spodenkiewicz, Marta ; Douillard, Claire...
Journal of Inherited Metabolic Disease.  44 (2021)  5 - p. 1199-1214 , 2021
Link: https://doi.org/10.1002/..
 
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9

10 years of CEMARA database in the AnDDI-Rares network: a u..:

Messiaen, Claude ; Racine, Caroline ; Khatim, Ahlem...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Clinical Genetics of Prolidase Deficiency: An Updated Revie:

Spodenkiewicz, Marta ; Spodenkiewicz, Michel ; Cleary, Maureen...
Biology.  9 (2020)  5 - p. 108 , 2020
Link: https://doi.org/10.3390/..
 
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11

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rar..:

Spodenkiewicz, Marta ; Diez-Fernandez, Carmen ; Rüfenacht, Véronique..
Biology.  5 (2016)  4 - p. 40 , 2016
Link: https://doi.org/10.3390/..
 
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12

The detection of a strong episignature for Chung-Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
0340-6717.  , 2024
Link: https://dspace.library.u..
 
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13

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
https://pure.eur.nl/en/publications/0548d101-47cf-47f5-84d9-542e7c2cf259.  , 2024
Link: https://pure.eur.nl/en/p..
 
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14

1p36 deletion syndrome: Review and mapping with further cha..:

Jacquin, Clémence ; Landais, Emilie ; Poirsier, Céline...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041.  , 2023
Link: https://hal.science/hal-..
 
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15

1p36 deletion syndrome: Review and mapping with further cha..:

Jacquin, Clémence ; Landais, Emilie ; Poirsier, Céline...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041.  , 2023
Link: https://hal.science/hal-..
 
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