E-LIB Suche - Ergebnisse für: Isidor, B.

1

Cost of exome analysis in patients with intellectual disabi..:

Soilly, AL ; Robert-Viard, C ; Besse, C...
BMC Health Services Research. 23 (2023) 1 - p. , 2023

2

Audiological phenotyping evaluation in KBG syndrome: Descri..:

Rhamati, L. ; Marcolla, A. ; Guerrot, A.M....
International Journal of Pediatric Otorhinolaryngology. 171 (2023) - p. 111606 , 2023

Link: https://doi.org/10.1016/..

3

The impact of the Next Generation Sequencing strategy in th..:

Koraichi, F. ; Ader, F. ; Donal, E....
Archives of Cardiovascular Diseases Supplements. 13 (2021) 1 - p. 23 , 2021

Link: https://doi.org/10.1016/..

4

Phacomatose pigmento-kératosique atypique liée à la mutatio..:

Bedouelle, E. ; Aubert, H. ; Isidor, B....
Annales de Dermatologie et de Vénéréologie. 147 (2020) 12 - p. A261-A262 , 2020

Link: https://doi.org/10.1016/..

5

Tumeurs myofibromateuses cutanées multiples et mutation du ..:

Scard, C. ; Carapito, R. ; Bahram, S...
Annales de Dermatologie et de Vénéréologie. 147 (2020) 12 - p. A277 , 2020

Link: https://doi.org/10.1016/..

6

Psycho-social impact of predictive genetic testing in hered..:

Bordet, C. ; Brice, S. ; Maupain, C....
Archives of Cardiovascular Diseases Supplements. 12 (2020) 1 - p. 32-33 , 2020

Link: https://doi.org/10.1016/..

7

Un syndrome peut en cacher un autre : association d'un synd..:

Ah-Thiane, L. ; Barbarot, S. ; Isidor, B..
Annales de Dermatologie et de Vénéréologie. 147 (2020) 12 - p. A260 , 2020

Link: https://doi.org/10.1016/..

8

Combined orthodontic and surgical treatment in PTH1R‐negati..:

Perrin, J.‐P. ; Millot, G. ; Isidor, B....
Oral Surgery. 12 (2019) 3 - p. 208-213 , 2019

Link: https://doi.org/10.1111/..

9

Macrodactylie isolée secondaire à une mutation activatrice ..:

Mesnard, C. ; Isidor, B. ; Guillard, S..
Annales de Dermatologie et de Vénéréologie. 146 (2019) 12 - p. A251-A252 , 2019

Link: https://doi.org/10.1016/..

10

Could pharyngeal fat injection with palatal lengthening be ..:

Diallo-Hornez, G. ; Khonsari, R.H. ; Mercier, J....
International Journal of Oral and Maxillofacial Surgery. 48 (2019) - p. 9 , 2019

Link: https://doi.org/10.1016/..

11

PRUNE1‐related disorder: Expanding the clinical spectrum:

Imagawa, E. ; Yamamoto, Y. ; Mitsuhashi, S....
Clinical Genetics. 94 (2018) 3-4 - p. 362-367 , 2018

Link: https://doi.org/10.1111/..

12

Wiedemann‐Steiner syndrome as a major cause of syndromic in..:

Baer, S. ; Afenjar, A. ; Smol, T....
Clinical Genetics. 94 (2018) 1 - p. 141-152 , 2018

Link: https://doi.org/10.1111/..

13

Un cas d'angiopathie rétinienne avec mutation du gène COL4A..:

Breuil, A. ; Isidor, B. ; Perol, J..
La Revue de Médecine Interne. 39 (2018) - p. A136 , 2018

Link: https://doi.org/10.1016/..

14

Okur‐Chung neurodevelopmental syndrome: Eight additional ca..:

Chiu, A.T.G. ; Pei, S.L.C. ; Mak, C.C.Y....
Clinical Genetics. 93 (2018) 4 - p. 880-890 , 2018

Link: https://doi.org/10.1111/..

15

Surgical management of lower lip pits in Van der Woude synd..:

Bertin, H. ; Diallo-Hornez, G. ; Isidor, B..
Journal of Stomatology, Oral and Maxillofacial Surgery. 119 (2018) 1 - p. 67-70 , 2018

Link: https://doi.org/10.1016/..