Annick Toutain

France

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Articles (10)

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Collaborators (10)

Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Christiane Zweier

SWITZERLAND

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Kilannin Krysiak

Assistant Professor

Washington University in St. Louis

UNITED STATES

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María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

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Cyril Goizet

Professeur PU-PH

University of Bordeaux

FRANCE

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Frédéric Tran Mau‐Them

FRANCE

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Jamal Ghoumid

Université de Lille

FRANCE

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Stephan Collins

University of Burgundy

FRANCE

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Robert Olaso

Head Lab

Commissariat à l'Énergie Atomique et aux Énergies Alternatives

FRANCE

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Irene NETCHINE

Head of department and head of research team

Sorbonne Université Faculté de Médecine

FRANCE

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Annick Toutain

Research Interests

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Articles (10)

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Collaborators (10)

Sandrine PASSEMARD

Christiane Zweier

Kilannin Krysiak

María Palomares-Bralo

Cyril Goizet

Frédéric Tran Mau‐Them

Jamal Ghoumid

Stephan Collins

Robert Olaso

Irene NETCHINE

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