|
|
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Elsa Leitão
,
Amandine Santini
,
Benjamin Cogne
,
Miriam Essid
,
Maria Athanasiadou
et al.
Article dans une revue
hal-05379108v1
|
|
|
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
Quentin Sabbagh
,
Camille Cenni
,
Sadegheh Haghshenas
,
Jean-Luc Alessandri
,
Mads Bak
et al.
Article dans une revue
hal-05579472v1
|
|
|
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie
,
Aldja Abderrahmane
,
Ouarda Abdous
,
Carine Abel
,
Oanez Ackermann
et al.
Article dans une revue
hal-04988732v1
|
|
|
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Isabelle Verlut
,
Sofia Guernouche
,
Massimiliano Rossi
,
Alexandru Szathmari
,
Pierre A Beuriat
et al.
Article dans une revue
hal-05290669v1
|
|
|
Thermally-driven microfluidic swirler for flow manipulation
Filippo Azzini
,
Gian Luca Morini
,
Beatrice Pulvirenti
,
Massimiliano Rossi
,
Marcos Rojas-Cárdenas
Article dans une revue
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|
|
|
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Valérie Cormier-Daire
,
Thomas Edouard
,
Bertrand Isidor
,
Swati Mukherjee
,
Jeanne M Pimenta
et al.
Article dans une revue
hal-05290775v1
|
|
|
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Ravi Savarirayan
,
Josep Maria de Bergua
,
Paul Arundel
,
Jean‐pierre Salles
,
Vrinda Saraff
et al.
Article dans une revue
hal-05045853v1
|
|
|
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Caroline Schluth-Bolard
,
Laïla El Khattabi
,
Pierre Antoine Rollat Farnier
,
Nicolas Chatron
,
Marion Beaumont
et al.
Article dans une revue
hal-05246796v1
|
|
|
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Mohammad‐reza Ghasemi
,
Sahand Tehrani Fateh
,
Afif Ben-Mahmoud
,
Vijay Gupta
,
Lara Stühn
et al.
Article dans une revue
hal-04980410v1
|
|
|
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Eléonore Viora-Dupont
,
Françoise Robert
,
Aline Chassagne
,
Aurore Pélissier
,
Stéphanie Staraci
et al.
Article dans une revue
hal-05290652v1
|
|
|
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Mohammad‐reza Ghasemi
,
Sahand Tehrani Fateh
,
Afif Ben‐mahmoud
,
Vijay Gupta
,
Lara G Stühn
et al.
Article dans une revue
hal-05290769v1
|
|
|
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Lucas Gauthier
,
Elisabeth Fontanges
,
Roland Chapurlat
,
Corinne Collet
,
Massimiliano Rossi
Article dans une revue
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|
|
|
Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes
Alexandre Guilhem
,
Severine Ruet
,
Patrick Edery
,
Cecile Acquaviva
,
Massimiliano Rossi
Article dans une revue
(data paper)
hal-04892293v1
|
|
|
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Kevin Perge
,
Emilie Capel
,
Carine Villanueva
,
Jérémie Gautheron
,
Safiatou Diallo
et al.
Article dans une revue
hal-04455965v1
|
|
|
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Thomas Husson
,
François Lecoquierre
,
Gaël Nicolas
,
Anne-Claire Richard
,
Alexandra Afenjar
et al.
Article dans une revue
hal-05290645v2
|
|
|
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Alexandre Guilhem
,
Severine Ruet
,
Patrick Edery
,
Cecile Acquaviva
,
Massimiliano Rossi
Article dans une revue
hal-05290644v1
|
|
|
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Gabriel N Aughey
,
Elisa Cali
,
Reza Maroofian
,
Maha S Zaki
,
Alistair T Pagnamenta
et al.
Article dans une revue
hal-05290610v1
|
|
|
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Valentin Ruault
,
Pauline Burger
,
Johanna Gradels-Hauguel
,
Nathalie Ruiz
,
Rami Abou Jamra
et al.
Article dans une revue
hal-04567616v1
|
|
|
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Maxence Mancini
,
Roland Chapurlat
,
Bertrand Isidor
,
Marine Desjonqueres
,
Guillaume Couture
et al.
Article dans une revue
hal-04823379v1
|
|
|
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Pauline Marzin
,
Sophie Rondeau
,
Jean-Luc Alessandri
,
Klaus Dieterich
,
Carine Le Goff
et al.
Article dans une revue
hal-04544905v1
|
|
|
Clinical interest of molecular study in cases of isolated midline craniosynostosis
Federico Di Rocco
,
Massimiliano Rossi
,
Isabelle Verlut
,
Alexandru Szathmari
,
Pierre Aurélien Beuriat
et al.
Article dans une revue
hal-05290624v1
|
|
|
Clinical interest of molecular study in cases of isolated midline craniosynostosis
Federico Di Rocco
,
Massimiliano Rossi
,
Isabelle Verlut
,
Alexandru Szathmari
,
Pierre-Aurélien Beuriat
et al.
Article dans une revue
hal-04636841v1
|
|
|
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Vassilis Sideropoulos
,
Jo van Herwegen
,
Ben Meuleman
,
Michael Alessandri
,
Faisal M Alnemary
et al.
Article dans une revue
hal-05290581v1
|
|
|
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Laurence Faivre
,
Jean‐charles Crépin
,
Manon Réda
,
Sophie Nambot
,
Virginie Carmignac
et al.
Article dans une revue
hal-05290738v1
|
|
|
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Jérémie Courraud
,
Camille Engel
,
Angélique Quartier
,
Nathalie Drouot
,
Ursula Houessou
et al.
Article dans une revue
hal-05290745v1
|
|
|
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Anne-Sophie Denommé-Pichon
,
Leslie Matalonga
,
Elke de Boer
,
Adam Jackson
,
Elisa Benetti
et al.
Article dans une revue
hal-05290572v1
|
|
|
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Roseline Vibert
,
Cyril Mignot
,
Boris Keren
,
Sandra Chantot-Bastaraud
,
Marie-France Portnoï
et al.
Article dans une revue
inserm-03838049v1
|
|
|
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Ravi Savarirayan
,
Josep Maria de Bergua
,
Paul Arundel
,
Helen Mcdevitt
,
Valerie Cormier-Daire
et al.
Article dans une revue
hal-04233776v1
|
|
|
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Sara Cabet
,
Alexandru Szathmari
,
Carmine Mottolese
,
Patricia Franco
,
Laurent Guibaud
et al.
Article dans une revue
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|
|
|
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Daphné Lehalle
,
Ange‐line Bruel
,
Antonio Vitobello
,
Anne‐sophie Denommé‐pichon
,
Yannis Duffourd
et al.
Article dans une revue
hal-05290783v1
|
|
|
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Ravi Savarirayan
,
Josep Maria de Bergua
,
Paul Arundel
,
Helen Mcdevitt
,
Valerie Cormier-Daire
et al.
Article dans une revue
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|
|
|
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Flavien Rouxel
,
Raissa Relator
,
Jennifer Kerkhof
,
Haley Mcconkey
,
Michael Levy
et al.
Article dans une revue
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|
|
|
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Nadieh A Jansen
,
Ruth O Braden
,
Siddharth Srivastava
,
Erin F Otness
,
Gaetan Lesca
et al.
Article dans une revue
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|
|
|
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Alix Mathonnet
,
Séverine Cunat
,
Fabienne Allias
,
Sandrine Caillot
,
Cyrielle Thonnon
et al.
Article dans une revue
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|
|
|
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,
Laurent Guibaud
,
Alice Goldenberg
,
Florence Petit
,
Rodolphe Dard
et al.
Article dans une revue
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|
|
|
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Claudia Modenato
,
Kuldeep Kumar
,
Clara Moreau
,
Sandra Martin-Brevet
,
Guillaume Huguet
et al.
Article dans une revue
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|
|
|
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,
Laurent Guibaud
,
Alice Goldenberg
,
Florence Petit
,
Rodolphe Dard
et al.
Article dans une revue
hal-05290616v1
|
|
|
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Claudia Bonardi
,
Henrike Heyne
,
Martina Fiannacca
,
Mark Fitzgerald
,
Elena Gardella
et al.
Article dans une revue
inserm-04957356v1
|
|
|
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Hani Saiedi
,
Massimiliano Rossi
,
Corinne Collet
,
Pauline Monin
,
Francois Tronc
et al.
Article dans une revue
hal-05290598v1
|
|
|
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Claude Messiaen
,
Caroline Racine
,
Ahlem Khatim
,
Louis Soussand
,
Sylvie Odent
et al.
Article dans une revue
hal-03403349v1
|
|
|
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Christophe Gauld
,
Alice Poisson
,
Julie Reversat
,
Elodie Peyroux
,
Françoise Houdayer-Robert
et al.
Article dans une revue
inserm-03306601v1
|
|
|
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Thomas Quinaux
,
Viola Custodi
,
Audrey Putoux
,
Justine Bacchetta
,
Massimiliano Rossi
et al.
Article dans une revue
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|
|
|
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Claudia Modenato
,
Kuldeep Kumar
,
Clara Moreau
,
Sandra Martin-Brevet
,
Guillaume Huguet
et al.
Article dans une revue
hal-05290641v1
|
|
|
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Sarah Baer
,
Nicolas Tuzin
,
Peter B Kang
,
Shehla Mohammed
,
Masaya Kubota
et al.
Article dans une revue
hal-05290660v1
|
|
|
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Thomas Quinaux
,
Viola Custodi
,
Audrey Putoux
,
Justine Bacchetta
,
Massimiliano Rossi
et al.
Article dans une revue
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|
|
|
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Sophie Nambot
,
Laurence Faivre
,
Ghayda Mirzaa
,
Julien Thevenon
,
Ange-Line Bruel
et al.
Article dans une revue
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|
|
|
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Marie-France Bonnetain
,
Christelle Rougeot-Jung
,
Catherine Sarret
,
Laurence Lion-François
,
Olivier Revol
et al.
Article dans une revue
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|
|
|
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Michael Smith
,
Elizabeth Alexander
,
Ruta Marcinkute
,
Dorica Dan
,
Myfanwy Rawson
et al.
Article dans une revue
hal-05290780v1
|
|
|
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Godelieve Morel
,
Celine Duhamel
,
Simon Boussion
,
Frederic Frenois
,
Gaetan Lesca
et al.
Article dans une revue
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|
|
|
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Henri Margot
,
Guilaine Boursier
,
Claire Duflos
,
Elodie Sanchez
,
Jeanne Amiel
et al.
Article dans une revue
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|
|
|
Treatment Responsiveness in KCNT1-Related Epilepsy
Mark Fitzgerald
,
Martina Fiannacca
,
Douglas Smith
,
Tracy Gertler
,
Boudewijn Gunning
et al.
Article dans une revue
hal-04560731v1
|
|
|
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Behrouz Kassai
,
Philippe Bouyé
,
Brigitte Gilbert-Dussardier
,
François Godart
,
Jean-Benoit Thambo
et al.
Article dans une revue
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|
|
|
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Julie Masson
,
Caroline Demily
,
Nicolas Chatron
,
Audrey Labalme
,
Pierre-Antoine Rollat-Farnier
et al.
Article dans une revue
(data paper)
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|
|
|
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,
Audrey Putoux
,
Marie Noelle Bonnet Dupeyron
,
Maryline Carneiro
,
Laurence Lion‐francois
et al.
Article dans une revue
(data paper)
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|
|
|
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,
Caroline Michot
,
Geneviève Baujat
,
Cyril Amouroux
,
Sabine Baron
et al.
Article dans une revue
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|
|
|
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Alonso Cárdenas-De-La-Parra
,
Sandra Martin-Brevet
,
Clara Moreau
,
Borja Rodriguez-Herreros
,
Vladimir Fonov
et al.
Article dans une revue
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|
|
|
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,
Flavie Diguet
,
Nicolas Chatron
,
Pierre-Antoine Rollat-Farnier
,
Claire Bardel
et al.
Article dans une revue
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|
|
|
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,
Anya Rothenbuhler
,
Valérie Cormier-Daire
,
Justine Bacchetta
,
Catherine Adamsbaum
et al.
Article dans une revue
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|
|
|
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,
Borja Rodríguez-Herreros
,
Jared Nielsen
,
Clara Moreau
,
Claudia Modenato
et al.
Article dans une revue
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|
|
|
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,
Solveig Heide
,
Jean-Hubert Caberg
,
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,
Martine Doco Fenzy
et al.
Article dans une revue
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|
|
|
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Julie Coton
,
Audrey Labalme
,
Marianne Till
,
Gerald Bussy
,
Sonia Krifi Papoz
et al.
Article dans une revue
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|
|
|
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
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|
|
|
Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
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,
Umut Altunoglu
,
Ange‐line Bruel
,
Mirna Assoum
,
Yannis Duffourd
et al.
Article dans une revue
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|
|
|
Autosomal recessive primary microcephaly due to ASPM mutations: An update
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,
Séverine Drunat
,
Yoann Vial
,
Sarah Duerinckx
,
Anais Ernault
et al.
Article dans une revue
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|
|
|
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,
Umut Altunoglu
,
Ange-Line Bruel
,
Mirna Assoum
,
Yannis Duffourd
et al.
Article dans une revue
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|
|
|
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre
,
Véronique Abadie
,
Tania Attié-Bitach
,
Nicole Philip
,
Tiffany Busa
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Article dans une revue
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|
|
|
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
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|
|
|
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions
Marie-Laure Mathieu
,
Caroline Demily
,
Sandra Chantot-Bastaraud
,
Alexandra Afenjar
,
Cyril Mignot
et al.
Article dans une revue
(data paper)
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|
|
|
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
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,
Hélène Poquet
,
Brigitte Gilbert-Dussardier
,
Massimiliano Rossi
,
Anne-Sophie Casteleyn
et al.
Article dans une revue
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|
|
|
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Caroline Demily
,
Alice Poisson
,
Elodie Peyroux
,
Valérie Gatellier
,
Alain Nicolas
et al.
Article dans une revue
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|
|
|
Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
,
Florence Riccardi
,
Aude Tessier
,
Rolph Pfundt
,
Tiffany Busa
et al.
Article dans une revue
istex
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|
|
|
Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome
Arnaud Leleu
,
Guillaume Saucourt
,
Caroline Rigard
,
Gabrielle Chesnoy
,
Jean-Yves Baudouin
et al.
Article dans une revue
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|
|
|
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Nadège Calmels
,
Géraldine Greff
,
Cathy Obringer
,
Nadine Kempf
,
Claire Gasnier
et al.
Article dans une revue
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|
|
|
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Nicolas Chassaing
,
Erica E. Davis
,
Kelly L. Mcknight
,
Adrienne R. Niederriter
,
Alexandre Causse
et al.
Article dans une revue
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|
|
|
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion
Nicolas Chatron
,
Véronique Haddad
,
Joris Andrieux
,
Julie Desir
,
Odile Boute
et al.
Article dans une revue
istex
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|
|
|
Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental
Caroline Demily
,
M. Rossi
,
M. Schneider
,
P. Edery
,
Arnaud Leleu
et al.
Article dans une revue
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|
|
|
New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger
,
Amale Ichkou
,
Soumaya Mougou-Zerelli
,
Martine Le Merrer
,
Géraldine Goudefroye
et al.
Article dans une revue
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|
|
|
ZEB2, a new candidate gene for asplenia.
Linda Pons
,
Sophie Dupuis-Girod
,
Marie-Pierre Cordier
,
Patrick Edery
,
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩
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