[PDF][PDF] Loss-of-function mutations in UNC45A cause a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility
…, PL Tan, A Bourchany, C De Leusse… - The American Journal of …, 2018 - cell.com
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter
individuals presenting with syndromic manifestations. Here, we have studied four affected …
individuals presenting with syndromic manifestations. Here, we have studied four affected …
Hepatocarcinoma and cholestasis associated to germline hemizygous deletion of gene HNF1B
C De Leusse, AM De Paula, A Aschero… - Journal of Pediatric …, 2019 - journals.lww.com
A 7-month-old female infant who was born preterm presented with craniosynostosis and
underwent a ventriculoperitoneal shunt after birth for congenital hydrocephalus. Bilious vomiting …
underwent a ventriculoperitoneal shunt after birth for congenital hydrocephalus. Bilious vomiting …
Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A
…, L Francescatto, PL Tan, A Bourchany, C De Leusse… - bioRxiv, 2017 - biorxiv.org
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter
individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied …
individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied …
[BOOK][B] Manifesta 13 Marseille: Le Grand Puzzle
H Fijen, W Maas - 2020 - books.google.com
The Manifesta, which takes place every two years in a different European city, has a reputation
for being a place for creativity and innovation, and for good reason. Primarily responsible …
for being a place for creativity and innovation, and for good reason. Primarily responsible …
Les 15-25 ans et les YouTubers scientifiques
S de Leusse-Le Guillou, C Perronnet, A Vincent… - 2020 - shs.hal.science
Phénomène internet en plein essor cette dernière décennie, les YouTubers communiquent
avec les jeunes sur une multitude de sujets dont les sciences. Nouvel espace de médiation, …
avec les jeunes sur une multitude de sujets dont les sciences. Nouvel espace de médiation, …
[HTML][HTML] Les booktubers, nouveaux critiques?
S Leusse - Strenæ. Recherches sur les livres et objets …, 2017 - journals.openedition.org
Phénomène international, le développement de chaînes sur YouTube semble élargir et
reconfigurer le champ de la critique : lecteurs adolescents ou jeunes adultes s’adressent à leurs …
reconfigurer le champ de la critique : lecteurs adolescents ou jeunes adultes s’adressent à leurs …
[CITATION][C] Please cite this article in press as: Esteve et al., Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired …
C Esteve, L Francescatto, PL Tan, A Bourchany - 2018
[BOOK][B] Protecting Freedom of Thought and Public Health in a Pandemic
…, I Trauthig, M Lamensch, P Samson, C de Leusse… - JSTOR
At the outset of the COVID-19 pandemic, governments worldwide implemented emergency
powers to minimize harms from a novel and deadly coronavirus spread by pre-symptomatic …
powers to minimize harms from a novel and deadly coronavirus spread by pre-symptomatic …
[PDF][PDF] Livres prescrits, livres choisis
M VASTA - Lecture Jeunesse, 2017 - lecturejeunesse.org
… Sonia de Leusse : Bernadette Seibel, expliquez-nous l’objectif de cette enquête confiée à
Cécile Rabot lorsque vous étiez présidente de Lecture Jeunesse. Bernadette Seibel : Nous …
Cécile Rabot lorsque vous étiez présidente de Lecture Jeunesse. Bernadette Seibel : Nous …
[BOOK][B] Elegance: The Seeberger Brothers and the Birth of Fashion Photography
S Aubenas, V Chardin, X Demange - 2007 - books.google.com
… Nevertheless, thanks to the family archives kindly placed at our disposal by Cecile Séeberger
(the widow of Albert Seeberger), we can outline the professional activity of this studio until …
(the widow of Albert Seeberger), we can outline the professional activity of this studio until …