Results 71 to 80 of about 1,747 (114)

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up. [PDF]

Eur J Hum Genet
Brunelle P, Jourdain AS, Escande F, Audebert-Bellanger S, Bouquillon S, Cormier-Daire V, Desdoits A, Lacombe D, Molin A, Gruchy N, Touraine R, Van Gils J, Ghoumid J, Thomes L, Petit F.   +14 more
europepmc   +1 more source

Body composition in adults with phenylketonuria: A 5 years follow-up study. [PDF]

Mol Genet Metab Rep
Franceschetto BF, Moutapam-Ngamby-Adriaansen Y, Tressel N, de Luca A, Schiff M, Poloni S, Schwartz IVD, Maillot F.   +7 more
europepmc   +1 more source

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study. [PDF]

Orphanet J Rare Dis
Lidove O, Masseau A, Pugnet G, Lacombe D, Dussol B, Bekri S, Hagège A, Martinez C, Fardini Y, Fouilhoux A, Noël E.   +10 more
europepmc   +1 more source

Persistence of lung hyperinflation and small airway dysfunction in school-aged children with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor: results from the real-world MODUL-CF study. [PDF]

ERJ Open Res
Colin L, Delaup V, Le Bourgeois M, Neve V, Wizla-Derambure N, Ioan IC, Tatopoulos A, Kieffer S, Blonde A, Bokov P, Houdoin V, Le Clainche L, Barzic A, Ohlmann C, Toin T, Perrin T, Coutier L, Abou Taam R, Bonnel AS, Rignani A, Feghali H, Bui S, Fayon M, Letierce A, Sermet-Gaudelus I, Reix P.   +25 more
europepmc   +1 more source

Chromosome-scale assembly of European flax (Linum usitatissimum L.) genotypes and pangenomic analysis provide genomic tools to improve breeding. [PDF]

BMC Genomics
Demenou BB, Ndar A, Pineau CP, Hinsinger DD, Marande W, Hourcade D, Faivre-Rampant P.   +6 more
europepmc   +1 more source

Consensus for the most suitable trial design to assess therapy for rare vascular malformations: a Delphi study. [PDF]

Sci Rep
Allemang-Trivalle A, Giraudeau B, Maruani A.   +2 more
europepmc   +1 more source

Correction: Desterke et al. Alternative Balance between Transcriptional and Epigenetic Regulation during Developmental Proliferation of Human Cranial Neural Crest Cells. <i>Cells</i> 2024, <i>13</i>, 1634. [PDF]

Cells
Desterke C, Francés R, Monge C, Marchio A, Pineau P, Mata-Garrido J.   +5 more
europepmc   +1 more source

Graft and Patient Survival After Liver Transplantation for Primary Sclerosing Cholangitis: A French National Cohort Study. [PDF]

Liver Int
Veyre F, Francoz C, Erard D, DeMartin E, Elkrief L, Besch C, Boillot O, Conti F, Dharancy S, Duvoux C, Gugenheim J, Hardwigsen J, Hilleret MN, Leroy V, Ollivier-Hourmand I, Gratien M, Houssel-Debry P, Kamar N, Roux O, Hiriart JB, Irles-Depe M, Pellegrin S, Durand F, Pageaux GP, Faure S, Coilly A, Radenne S, Saliba F, Samuel D, Vanlemmens C, Latournerie M, Boudjema K, Salamé E, Chazouillères O, Corpechot C, Dumortier J.   +35 more
europepmc   +1 more source

Fibronectin-gelatin nanofilm coating improves dental pulp stem cell survival and differentiation in odontogenesis-mimicking organotypic 3D bilayered constructs. [PDF]

Front Dent Med
Jimenez-Armijo A, Bugueno IM, Jerbaka F, Suss E, Caravello G, Kawczynski M, Arntz Y, Bloch-Zupan A, Gribova V.   +8 more
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source