000 02224 a2200697 4500
005 20250517182436.0
264 0 _c20190920
008 201909s 0 0 eng d
022 _a1468-6244
024 7 _a10.1136/jmedgenet-2017-104976
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRenaux-Petel, Mariette
245 0 0 _aContribution of de novo and mosaic
_h[electronic resource]
260 _bJournal of medical genetics
_c03 2018
300 _a173-180 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdrenocortical Carcinoma
_xblood
650 0 4 _aAdult
650 0 4 _aBreast Neoplasms
_xblood
650 0 4 _aChild
650 0 4 _aChoroid Plexus Neoplasms
_xblood
650 0 4 _aFemale
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aGerm-Line Mutation
_xgenetics
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHumans
650 0 4 _aLi-Fraumeni Syndrome
_xblood
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMosaicism
650 0 4 _aTumor Suppressor Protein p53
_xblood
650 0 4 _aYoung Adult
700 1 _aCharbonnier, Françoise
700 1 _aThéry, Jean-Christophe
700 1 _aFermey, Pierre
700 1 _aLienard, Gwendoline
700 1 _aBou, Jacqueline
700 1 _aCoutant, Sophie
700 1 _aVezain, Myriam
700 1 _aKasper, Edwige
700 1 _aFourneaux, Steeve
700 1 _aManase, Sandrine
700 1 _aBlanluet, Maud
700 1 _aLeheup, Bruno
700 1 _aMansuy, Ludovic
700 1 _aChampigneulle, Jacqueline
700 1 _aChappé, Céline
700 1 _aLongy, Michel
700 1 _aSévenet, Nicolas
700 1 _aPaillerets, Brigitte Bressac-de
700 1 _aGuerrini-Rousseau, Léa
700 1 _aBrugières, Laurence
700 1 _aCaron, Olivier
700 1 _aSabourin, Jean-Christophe
700 1 _aTournier, Isabelle
700 1 _aBaert-Desurmont, Stéphanie
700 1 _aFrébourg, Thierry
700 1 _aBougeard, Gaëlle
773 0 _tJournal of medical genetics
_gvol. 55
_gno. 3
_gp. 173-180
856 4 0 _uhttps://doi.org/10.1136/jmedgenet-2017-104976
_zAvailable from publisher's website
999 _c27722485
_d27722485