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A severe clinical phenotype of Noonan syndrome with neonata..:

Jaouadi, Hager ; Ben Chehida, Amel ; Kraoua, Lilia...
info:eu-repo/semantics/altIdentifier/doi/10.1017/S0016672319000041. , 2019

Link: https://amu.hal.science/hal-02461305

RT Journal
T1 <Title>A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftriip:oai:HAL:hal-02461305v1&Exemplar=1&LAN=DE
				
A1 Jaouadi, Hager
A1 Ben Chehida, Amel
A1 Kraoua, Lilia
A1 Etchevers, Heather
A1 Argiro, Laurent
A1 Kasdallah, Nadia
A1 Blibech, Sonia
A1 Delague, Valérie
A1 Lévy, Nicolas
A1 Tebib, Neji
A1 Mrad, Ridha
A1 Abdelhak, Sonia
A1 Benkhalifa, Rym
A1 Zaffran, Stéphane
PB HAL CCSD; Cambridge University Press (CUP)
YR 2019
K1 RAF1 mutation
K1 whole exome sequencing
K1 hypertrophic cardiomyopathy
K1 Noonan syndrome
K1 RAS/MAPK pathway
K1 [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs
K1 [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics
K1 [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
K1 [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
K1 [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
K1 [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics
K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
K1 [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis
JF info:eu-repo/semantics/altIdentifier/doi/10.1017/S0016672319000041
LK http://dx.doi.org/https://amu.hal.science/hal-02461305
DO https://amu.hal.science/hal-02461305
SF ELIB - SuUB Bremen

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