000 01805 a2200421 4500
005 20250518060923.0
264 0 _c20210617
008 202106s 0 0 eng d
022 _a1476-4954
024 7 _a10.1080/14767058.2019.1657084
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHoudayer, Clara
245 0 0 _aPrenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
_h[electronic resource]
260 _bThe journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
_cJul 2021
300 _a2217-2220 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aCraniofacial Abnormalities
650 0 4 _aDwarfism
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aJoint Instability
650 0 4 _aOssification, Heterotopic
650 0 4 _aPolydactyly
650 0 4 _aPregnancy
650 0 4 _aPrenatal Diagnosis
650 0 4 _aExome Sequencing
700 1 _aZiegler, Alban
700 1 _aBoussion, Françoise
700 1 _aBlesson, Sophie
700 1 _aBris, Céline
700 1 _aToutain, Annick
700 1 _aBiquard, Florence
700 1 _aGuichet, Agnès
700 1 _aBonneau, Dominique
700 1 _aColin, Estelle
773 0 _tThe journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
_gvol. 34
_gno. 13
_gp. 2217-2220
856 4 0 _uhttps://doi.org/10.1080/14767058.2019.1657084
_zAvailable from publisher's website
999 _c30101975
_d30101975