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Acid Ceramidase Deficiency
Silvestre Cuinat
,
Paul Rollier
,
Katheryn Grand
,
Pedro A Sanchez-Lara
,
Michelle Allen-Sharpley
et al.
Article dans une revue
inserm-04994343
v1
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A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene
Badreddine Elmakhzen
,
Paul Rollier
,
Clémence Saillard
,
Benoît Godey
,
Cedric Le Marechal
et al.
Article dans une revue
hal-05097882
v1
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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico
,
Julitta de Bellescize
,
Matthias de Wachter
,
Xavier Le Guillou
,
Guylène Le Meur
et al.
Article dans une revue
hal-05037055
v1
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility
A. Cospain
,
Ludivine Dion
,
Maud Bidet
,
Krystel Nyangoh Timoh
,
Chloé Quélin
et al.
Article dans une revue
hal-04767398
v1
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DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
Alinoë Lavillaureix
,
Paul Rollier
,
Artem Kim
,
Veranika Panasenkava
,
Marie de Tayrac
et al.
Article dans une revue
hal-04534147
v1
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Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family
Abdelhakim Bouazzaoui
,
Chloé Quélin
,
Celine Rozel
,
Wilfrid Carré
,
Christèle Dubourg
et al.
Article dans une revue
hal-04869950
v1
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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: a French real‐life observational study
M. Tardieu
,
C. Cudejko
,
A. Cano
,
C. Hoebeke
,
D. Bernoux
et al.
Article dans une revue
hal-04108445
v1
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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
Charles Lefèvre
,
François Labarthe
,
Diane Dufour
,
Caroline Moreau
,
Marie Faoucher
et al.
Article dans une revue
hal-04165959
v1
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Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism
Charles R. Lefèvre
,
Elise Sacaze
,
Léna Damaj
,
Paul Rollier
,
Marie Lenski
et al.
Clinical Chemistry and Laboratory Medicine, 2023, Clinical Chemistry and Laboratory Medicine, 61 (12), pp.e263-e267. ⟨10.1515/cclm-2023-0425⟩
Article dans une revue
hal-04554419
v1
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain
,
Ana Rivera-Barahona
,
Erwan Dumontet
,
Blanca Gener
,
Isabelle Bailleul-Forestier
et al.
Article dans une revue
hal-03954791
v1
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Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability
Paul Rollier
,
Sandrine de Montgolfier
,
Christèle Dubourg
,
Wilfrid Carre
,
Véronique David
et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.583-583
Article dans une revue
hal-03687603
v1
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon
,
Antonio Vitobello
,
Robert Olaso
,
Alban Ziegler
,
Médéric Jeanne
et al.
Article dans une revue
hal-03854163
v1
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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
,
Cyril Mignot
,
Emmanuelle Blanchard
,
Paul Kuentz
,
Marie-Hélène Aubriot-Lorton
et al.
Article dans une revue
hal-03602381
v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
,
Cyril Mignot
,
Emmanuelle Blanchard
,
Paul Kuentz
,
Marie-Hélène Aubriot-Lorton
et al.
Article dans une revue
hal-03602359
v1
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De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Alka Malhotra
,
Alban Ziegler
,
Li Shu
,
Renee Perrier
,
Louise Amlie-Wolf
et al.
Article dans une revue
hal-02953511
v1
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Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network
A. Denomme-Pichon
,
A. Vitobello
,
Robert Olaso
,
A. Ziegler
,
Bertrand Isidor
et al.
European Journal of Human Genetics, 2020, 28 (Suppl 1), pp.607-607
Article dans une revue
cea-04419424
v1
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Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia
Marion Beaumont
,
Elena Tucker
,
Laura Mary
,
Erika Launay
,
Yann Lurton
et al.
Article dans une revue
hal-02440057
v1
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart
,
Xenia Latypova
,
Paul Rollier
,
Tahir Khan
,
Hannah Stamberger
et al.
Article dans une revue
hal-01796580
v1
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