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Maldergem, L. Van
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1

FLNC pathogenic variants in patients with cardiomyopathies:..:

Ader, F. ; De Groote, P. ; Reant, P....
Archives of Cardiovascular Diseases Supplements.  12 (2020)  1 - p. 31-32 , 2020
Link: https://doi.org/10.1016/..
 
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2

L'étude d'une cohorte de patientes avec diminution de réser..:

Heddar, A. ; Jaillard, S. ; Beneteau, C....
Annales d'Endocrinologie.  81 (2020)  4 - p. 181-182 , 2020
Link: https://doi.org/10.1016/..
 
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3

CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phen..:

Carton de Tournai, D. ; Vandernoot, I. ; Marangoni, M....
Journal of the European Academy of Dermatology and Venereology.  35 (2020)  1 - p. , 2020
Link: https://doi.org/10.1111/..
 
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4

P1247FLNC pathogenic variants in patients with various card..:

Ader, F ; De Groote, P ; Reant, P...
European Heart Journal.  40 (2019)  Supplement_1 - p. , 2019
Link: https://doi.org/10.1093/..
 
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5

FLNC mutations in patients with cardiomyopathies: Prevalenc..:

Ader, F. ; De Groote, P. ; Reant, P....
Archives of Cardiovascular Diseases Supplements.  11 (2019)  2 - p. 268 , 2019
Link: https://doi.org/10.1016/..
 
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6

Genetic assessment and folate receptor autoantibodies in in..:

Ramaekers, V.Th. ; Segers, K. ; Sequeira, J.M....
Molecular Genetics and Metabolism.  124 (2018)  1 - p. 87-93 , 2018
Link: https://doi.org/10.1016/..
 
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7

IL11RA‐related Crouzon‐like autosomal recessive craniosynos..:

Brischoux‐Boucher, E. ; Trimouille, A. ; Baujat, G....
Clinical Genetics.  94 (2018)  3-4 - p. 373-380 , 2018
Link: https://doi.org/10.1111/..
 
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8

Extension of the phenotype of biallelic loss‐of‐function mu..:

Braunisch, M.C. ; Gallwitz, H. ; Abicht, A....
Clinical Genetics.  93 (2017)  2 - p. 255-265 , 2017
Link: https://doi.org/10.1111/..
 
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9

Congenital generalized lipodystrophy: identification of nov..:

Haghighi, A. ; Kavehmanesh, Z. ; Haghighi, A....
Clinical Genetics.  89 (2015)  4 - p. 434-441 , 2015
Link: https://doi.org/10.1111/..
 
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10

Kératodermie aquagénique et mutations du gène CFTR:

Cabrol, C. ; Delobeau, M. ; Bienvenu, T....
Annales de Dermatologie et de Vénéréologie.  142 (2015)  12 - p. S586 , 2015
Link: https://doi.org/10.1016/..
 
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11

Drôle d'allergie à l'eau !:

Cabrol, C. ; Bienvenu, T. ; Van Maldergem, L....
La Revue de Médecine Interne.  36 (2015)  - p. A22 , 2015
Link: https://doi.org/10.1016/..
 
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12

Schwannomes multiples diffus : penser KRAS:

Chamard, L. ; Piard, J. ; Cavé, H..
Revue Neurologique.  170 (2014)  - p. A148 , 2014
Link: https://doi.org/10.1016/..
 
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13

Li-Fraumeni syndrome: Multiple distinct brain tumours in tw..:

Lechien, J.R. ; Brotchi, J. ; Van Maldergem, L....
Neurochirurgie.  60 (2014)  1-2 - p. 51-54 , 2014
Link: https://doi.org/10.1016/..
 
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14

An update on serine deficiency disorders:

van der Crabben, S. N. ; Verhoeven‐Duif, N. M. ; Brilstra, E. H....
Journal of Inherited Metabolic Disease.  36 (2013)  4 - p. 613-619 , 2013
Link: https://doi.org/10.1007/..
 
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15

OFD1 mutations in males: phenotypic spectrum and ciliary ba..:

Thauvin‐Robinet, C ; Thomas, S ; Sinico, M...
Clinical Genetics.  84 (2012)  1 - p. 86-90 , 2012
Link: https://doi.org/10.1111/..
 
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