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Skraban-Deardorff Syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
Auriane Cospain
,
Elise Schaefer
,
Marie Faoucher
,
Christèle Dubourg
,
Wilfrid Carré
et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256
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hal-03798602v1
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
Aidin Foroutan
,
Sadegheh Haghshenas
,
Pratibha Bhai
,
Michael A Levy
,
Jennifer Kerkhof
et al.
Article dans une revue
inserm-03561254v1
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Aurore Garde
,
Jenny Cornaton
,
Arthur Sorlin
,
Sébastien Moutton
,
Claire Nicolas
et al.
Article dans une revue
hal-03124488v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven
,
Sophie Nambot
,
Amélie Piton
,
Nolwenn Jean-Marçais
,
Alice Masurel
et al.
Article dans une revue
hal-02883449v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
et al.
Article dans une revue
hal-01560204v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Article dans une revue
hal-01920261v1
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Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS
Sarah Snanoudj
,
Arnaud Molin
,
Cindy Colson
,
Nadia Coudray
,
Sylvie Paulien
et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Communication dans un congrès
hal-02436511v1
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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
Mathilde Lefebvre
,
Anne Dieux-Coeslier
,
Geneviève Baujat
,
Elise Schaefer
,
Saint-Onge Judith
et al.
Article dans une revue
hal-02012240v1
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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany
,
Christel Thauvin-Robinet
,
Daphne Lehalle
,
Ange-Line Bruel
,
Paul Masurel-Paulet
et al.
Article dans une revue
hal-01626052v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jeremie Courraud
,
Eric Chater-Diehl
,
Benjamin Durand
,
Marie Vincent
,
Maria del Mar Muniz Moreno
et al.
Article dans une revue
hal-03269307v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Article dans une revue
hal-01237103v1
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