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Maldergem, L. Van
404
results:
Search for persons
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Format
Online (404)
Mediatypes
Articles (Online) (146)
OpenAccess-fulltext (258)
Languages
english (388)
french (4)
Sorted by: Relevance
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
1-15