부산대학교 도서관

Cifuentes, E.‐a.; Beau, A.; Caillet, A.; Frémont, F.; J. Neville, A.; Ballardini, E.; Dolk, H.; Loane, M.; Garne, E.; Khoshnood, B.; Lelong, N; Rissmann, A.; O'Mahony, M.; Pierini, A.; Gatt, M.; E. H. Bergman, J.; R. Krawczynski, M.; Latos Bielenska, A.; Echevarría González de Garibay, L.‐j.; Cavero‐carbonell, Clara; Addor, M. C.; Tucker, D.; Jordan, S.; den Hond, E.; Nelen, V.; Barisic, I.; Rouget, Florence; Randrianaivo, H.; Hoareau, J; Perthus, I.; Courtade‐saïdi, M.; Damase-Michel, Christine; Dubucs, C.

Birth Defects Research. 117

Debost-Legrand, A. ; Perthus, I. ; Rivière, O. ; Gallot, D. ; Lémery, D. ; Vendittelli, F.

In Journal of Gynecology Obstetrics and Human Reproduction March 2018 47(3):107-111

Saint-Lary, L.; Beau, A.-B.; Sommet, A.; Leroy, V.; Damase-Michel, C.; Loane, M.; Cavero-Carbonell, C.; Garne, E.; Hoareau, J.; Bielenska, A.L.; Monier, I.; Nelen, V.; Neville, A.J.; O’Mahony, M.; Perthus, I.; Pierini, A.; Rissmann, A.; Rouget, F.; Sichitiu, J.; Tucker, D.; Dolk, H.

In: European Journal of Clinical Pharmacology. (European Journal of Clinical Pharmacology, May 2025, 81(5):697-709)

Santoro M; Coi A; Barii I; Garne E; Addor MC; Bergman JEH; Bianchi F; Boban L; Braz P; CaveroCarbonell C; Gatt M; Haeusler M; KinsnerOvaskainen A; Klungsøyr K; Kurinczuk JJ; Lelong N; Luyt K; MaternaKiryluk A; Mokoroa O; Mullaney C; Nelen V; Neville AJ; O'Mahony MT; Perthus I; Randrianaivo H; Rankin J; Rissmann A; Rouget F; Schaub B; Tucker D; Wellesley D; Yevtushok L; Pierini A

NEUROEPIDEMIOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO: Repositorio Institucional de Producción Científica
Santoro, M, Coi, A, Barišić, I, Garne, E, Addor, M-C, Bergman, J E H, Bianchi, F, Boban, L, Braz, P, Cavero-Carbonell, C, Gatt, M, Haeusler, M, Kinsner-Ovaskainen, A, Klungsøyr, K, Kurinczuk, J J, Lelong, N, Luyt, K, Materna-Kiryluk, A, Mokoroa, O, Mullaney, C, Nelen, V, Neville, A J, O'Mahony, M T, Perthus, I, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Yevtushok, L & Pierini, A 2019, 'Epidemiology of Dandy-Walker Malformation in Europe : A EUROCAT Population-Based Registry Study', Neuroepidemiology. https://doi.org/10.1159/000501238
Santoro, M, Coi, A, Barišić, I, Garne, E, Addor, M-C, Bergman, J E H, Bianchi, F, Boban, L, Braz, P, Cavero-Carbonell, C, Gatt, M, Haeusler, M, Kinsner-Ovaskainen, A, Klungsøyr, K, Kurinczuk, J J, Lelong, N, Luyt, K, Materna-Kiryluk, A, Mokoroa, O, Mullaney, C, Nelen, V, Neville, A J, O'Mahony, M T, Perthus, I, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Yevtushok, L & Pierini, A 2019, ' Epidemiology of Dandy-Walker Malformation in Europe : A EUROCAT Population-Based Registry Study ', Neuroepidemiology, vol. 53, no. 3-4, pp. 169-179 . https://doi.org/10.1159/000501238
Neuroepidemiology
169–179

Dubucs, C.; Caillet, A.; Delteil, L.; N'Go, V.; Hurault-Delarue, C.; Damase-Michel, C.; Courtade-Saïdi, M.; Frémont, F.; Neville, A.J.; Ballardini, E.; Dolk, H.; Loane, M.; Garne, E.; Khoshnood, B.; Lelong, N.; Rissmann, A.; O'Mahony, M.; Pierini, A.; Gatt, M.; Bergman, J.; Krawczynski, M.R.; Latos Bielenska, A.; Echevarría González de Garibay, L.J.; Cavero-Carbonell, C.; Addor, M.-C.; Tucker, D.; Jordan, S.; Den Hond, E.; Nelen, V.; Barisic, I.; Rouget, F.; Randrianaivo, H.; Hoareau, J.; Perthus, I.

In: Birth Defects Research. (Birth Defects Research, November 2024, 116(11))

Boudet-Berquier, J.; Gallay, A.; Gomes, E.; Regnault, N.; Demattei, C.; Guldner, L.; Le Barbier, M.; Manouvrier, S.; Botton, J.; Philippat, C.; Delva, F.; Bloch, J.; Desenclos, J.-C.; Semaille, C.; Odent, S.; Perthus, I.; Randrianaivo, H.; Babajko, S.; Barjat, T.; Beneteau, C.; Brennetot, N.; Garne, E.; Haddad, G.; Hocine, M.; Lacroix, I.; Leuraud, K.; Mench, M.; Morris, J.; Patrier, S.; Sartelet, A.; Verloes, A.; Bonaldi, C.; Guajardo-Villar, A.; Gagnière, B.; Pépin, P.; Ollivier, R.; Bitoun, M.; King, L.; Benachi, A.

In: European Journal of Epidemiology. (European Journal of Epidemiology, July 2024, 39(7):753-771)

Denomme-Pichon A. -S.; Bruel A. -L.; Duffourd Y.; Safraou H.; Thauvin-Robinet C.; Tran Mau-Them F.; Philippe C.; Vitobello A.; Jean-Marcais N.; Moutton S.; Thevenon J.; Faivre L.; Matalonga L.; de Boer E.; Gilissen C.; Hoischen A.; Kleefstra T.; Pfundt R.; de Vries B. B. A.; Willemsen M. H.; Vissers L. E. L. M.; Jackson A.; Banka S.; Clayton-Smith J.; Benetti E.; Fallerini C.; Renieri A.; Ciolfi A.; Dallapiccola B.; Pizzi S.; Radio F. C.; Tartaglia M.; Ellwanger K.; Graessner H.; Haack T. B.; Zurek B.; Havlovicova M.; Macek M.; Ryba L.; Schwarz M.; Votypka P.; Martin E. L.; Posada M.; Mencarelli M. A.; Rooryck C.; Trimouille A.; Verloes A.; Abbott K. M.; Kerstjens M.; Maystadt I.; Morleo M.; Nigro V.; Pinelli M.; Riess O.; Agathe J. -M. D. S.; Santen G. W. E.; Thauvin C.; Torella A.; Vissers L.; Zguro K.; Boer E. D.; Cohen E.; Danis D.; Gao F.; Horvath R.; Johari M.; Johanson L.; Li S.; Morsy H.; Nelson I.; Paramonov I.; te Paske I. B. A. W.; Robinson P.; Savarese M.; Steyaert W.; Topf A.; van der Velde J. K.; Vandrovcova J.; Ossowski S.; Demidov G.; Sturm M.; Schulze-Hentrich J. M.; Schule R.; Xu J.; Kessler C.; Wayand M.; Synofzik M.; Wilke C.; Traschutz A.; Schols L.; Hengel H.; Lerche H.; Kegele J.; Heutink P.; Brunner H.; Scheffer H.; Hoogerbrugge N.; 't Hoen P. A. C.; Sablauskas K.; de Voer R. M.; Kamsteeg E. -J.; van de Warrenburg B.; van Os N.; Paske I. T.; Janssen E.; Steehouwer M.; Yaldiz B.; Brookes A. J.; Veal C.; Gibson S.; Maddi V.; Mehtarizadeh M.; Riaz U.; Warren G.; Dizjikan F. Y.; Shorter T.; Straub V.; Bettolo C. M.; Manera J. D.; Hambleton S.; Engelhardt K.; Alexander E.; Peyron C.; Pelissier A.; Beltran S.; Gut I. G.; Laurie S.; Piscia D.; Papakonstantinou A.; Bullich G.; Corvo A.; Fernandez-Callejo M.; Hernandez C.; Pico D.; Lochmuller H.; Gumus G.; Bros-Facer V.; Rath A.; Hanauer M.; Lagorce D.; Hongnat O.; Chahdil M.; Lebreton E.; Stevanin G.; Durr A.; Davoine C. -S.; Guillot-Noel L.; Heinzmann A.; Coarelli G.; Bonne G.; Evangelista T.; Allamand V.; Ben Yaou R.; Metay C.; Eymard B.; Atalaia A.; Stojkovic T.; Turnovec M.; Thomasova D.; Kremlikova R. P.; Frankova V.; Liskova P.; Dolezalova P.; Parkinson H.; Keane T.; Freeberg M.; Thomas C.; Spalding D.; Robert G.; Costa A.; Patch C.; Hanna M.; Houlden H.; Reilly M.; Efthymiou S.; Cali E.; Magrinelli F.; Sisodiya S. M.; Rohrer J.; Muntoni F.; Zaharieva I.; Sarkozy A.; Timmerman V.; Baets J.; de Vries G.; De Winter J.; Beijer D.; de Jonghe P.; Van de Vondel L.; De Ridder W.; Weckhuysen S.; Mutarelli M.; Varavallo A.; Banfi S.; Musacchia F.; Piluso G.; Ferlini A.; Selvatici R.; Gualandi F.; Bigoni S.; Rossi R.; Neri M.; Aretz S.; Spier I.; Sommer A. K.; Peters S.; Oliveira C.; Pelaez J. G.; Matos A. R.; Jose C. S.; Ferreira M.; Gullo I.; Fernandes S.; Garrido L.; Ferreira P.; Carneiro F.; Swertz M. A.; Johansson L.; van der Vries G.; Neerincx P. B.; Ruvolo D.; Kerstjens Frederikse W. S.; Zonneveld-Huijssoon E.; Roelofs-Prins D.; van Gijn M.; Kohler S.; Metcalfe A.; Drunat S.; Heron D.; Mignot C.; Keren B.; Lacombe D.; Capella G.; Valle L.; Holinski-Feder E.; Laner A.; Steinke-Lange V.; Cilio M. -R.; Carpancea E.; Depondt C.; Lederer D.; Sznajer Y.; Duerinckx S.; Mary S.; Macaya A.; Cazurro-Gutierrez A.; Perez-Duenas B.; Munell F.; Jarava C. F.; Maso L. B.; Marce-Grau A.; Colobran R.; Hackman P.; Udd B.; Hemelsoet D.; Dermaut B.; Schuermans N.; Poppe B.; Verdin H.; Osorio A. N.; Depienne C.; Roos A.; Cordts I.; Deschauer M.; Striano P.; Zara F.; Riva A.; Iacomino M.; Uva P.; Scala M.; Scudieri P.; Basak A. N.; Claeys K.; Boztug K.; Haimel M.; W. E G.; Ruivenkamp C. A. L.; Natera de Benito D.; Thompson R.; Polavarapu K.; Grimbacher B.; Zaganas I.; Kokosali E.; Lambros M.; Evangeliou A.; Spilioti M.; Kapaki E.; Bourbouli M.; Balicza P.; Molnar M. J.; De la Paz M. P.; Sanchez E. B.; Delgado B. M.; Alonso Garcia de la Rosa F. J.; Schrock E.; Rump A.; Mei D.; Vetro A.; Balestrini S.; Guerrini R.; Chinnery P. F.; Ratnaike T.; Schon K.; Maver A.; Peterlin B.; Munchau A.; Lohmann K.; Herzog R.; Pauly M.; May P.; Beeson D.; Cossins J.; Furini S.; Afenjar A.; Goldenberg A.; Masurel A.; Phan A.; Dieux-Coeslier A.; Fargeot A.; Guerrot A. -M.; Toutain A.; Molin A.; Sorlin A.; Putoux A.; Jouret B.; Laudier B.; Demeer B.; Doray B.; Bonniaud B.; Isidor B.; Gilbert-Dussardier B.; Leheup B.; Reversade B.; Paul C.; Vincent-Delorme C.; Neiva C.; Poirsier C.; Quelin C.; Chiaverini C.; Coubes C.; Francannet C.; Colson C.; Desplantes C.; Wells C.; Goizet C.; Sanlaville D.; Amram D.; Lehalle D.; Genevieve D.; Gaillard D.; Zivi E.; Sarrazin E.; Steichen E.; Schaefer E.; Lacaze E.; Jacquemin E.; Bongers E.; Kilic E.; Colin E.; Giuliano F.; Prieur F.; Laffargue F.; Morice-Picard F.; Petit F.; Cartault F.; Feillet F.; Baujat G.; Morin G.; Diene G.; Journel H.; Perthus I.; Lespinasse J.; Alessandri J. -L.; Amiel J.; Martinovic J.; Delanne J.; Albuisson J.; Lambert L.; Perrin L.; Ousager L. B.; Van Maldergem L.; Pinson L.; Ruaud L.; Samimi M.; Bournez M.; Bonnet-Dupeyron M. N.; Vincent M.; Jacquemont M. -L.; Cordier-Alex M. -P.; Gerard-Blanluet M.; Willems M.; Spodenkiewicz M.; Doco-Fenzy M.; Rossi M.; Renaud M.; Fradin M.; Mathieu M.; Holder-Espinasse M. H.; Houcinat N.; Hanna N.; Leperrier N.; Chassaing N.; Philip N.; Boute O.; Van Kien P. K.; Parent P.; Bitoun P.; Sarda P.; Vabres P.; Jouk P. -S.; Touraine R.; El Chehadeh S.; Whalen S.; Marlin S.; Passemard S.; Grotto S.; Bellanger S. A.; Blesson S.; Nambot S.; Naudion S.; Lyonnet S.; Odent S.; Attie-Bitach T.; Busa T.; Drouin-Garraud V.; Layet V.; Bizaoui V.; Cusin V.; Capri Y.; Alembik Y.

Repisalud
Instituto de Salud Carlos III (ISCIII)
Genetics in Medicine, 25, 4
Solve-RD DITF-ITHACA, Solve-RD SNV-indel working group, Solve-RD Consortia, Orphanomix Group, Denommé-Pichon, A-S, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S, Bruel, A-L, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Duffourd, Y, Ellwanger, K, Fallerini, C, Gilissen, C, Graessner, H, Haack, T B, Havlovicova, M, Hoischen, A, Jean-Marçais, N, Kleefstra, T, López-Martín, E, Macek, M, Mencarelli, M A, Moutton, S, Pfundt, R, Pizzi, S, Posada, M, Radio, F C, Renieri, A, Rooryck, C, Ryba, L, Safraou, H, Tartaglia, M, Thauvin-Robinet, C, Thevenon, J, Mau-Them, F T, Trimouille, A, Votypka, P, de Vries, B B A, Willemsen, M H, Zurek, B, Verloes, A, Philippe, C, Vitobello, A, Vissers, L E L M & Faivre, L 2023, 'A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, 100018. https://doi.org/10.1016/j.gim.2023.100018
GENETICS IN MEDICINE
Genetics in Medicine

Bergman JEH; Eurocat Northern Netherlands, Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Perraud A; European Commission, Joint Research Centre (JRC), Geel, Belgium.; Garne E; Department of Pediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.; Barisic I; Medical School University of Zagreb, Zagreb, Croatia.; Tucker D; Research Data & Digital Directorate, Public Health Wales, Swansea, UK.; Ballardini E; Department of Medical Sciences, Neonatal Intensive Care Unit, University Hospital of Ferrara, University of Ferrara, IMER Registry (Emilia Romagna Registry of Birth Defects), Ferrara, Italy.; Bruneau L; The Reunion Registry of Congenital Malformations REMACOR, Department of Public Health and Research Support, University Hospital of La Réunion, Saint Pierre, France.; Center for Clinical Investigation (CIC) 14 10 Clinical Epidemiology, Department of Public Health and Research Support, University Hospital of La Réunion, National Institute of Health and Medical Research INSERM, Saint-Denis, France.; Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.; Cousin I; REMALAN, Department of Pediatric Surgery, CHU de Martinique, Fort de France, France.; Gatt M; Directorate for Health Information and Research, Tal-Pietà, Malta.; Kovacheva K; Department of Medical Genetics, Medical University, Pleven, Bulgaria.; Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; O'Mahony M; Department of Public Health HSE-SW, St Finbarrs' Hospital, Cork, Ireland.; Monier I; Centre for Research in Epidemiology and Statistics, Obstetrical Perinatal and Pediatric Life Course Epidemiology Research Team (OPPaLE), F-75004, Université Paris Cité and Université Sorbonne Paris Nord, INSERM, INRAE, Paris, France.; Perthus I; Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence Maladies Rares 'Anomalies du développement et Syndromes Malformatifs', University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.; Pertile R; Department of Clinical and Evaluative Epidemiology, Healthcare Trust of the Autonomous Province of Trento, APSS, Trento, Italy.; Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; Rouget F; Brittany Registry of Congenital Anomalies, CHU Rennes, University of Rennes, INSERM, EHESP, Irset-UMR 1085, Rennes, France.; Santoro M; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.; Sichitiu J; Ultrasound and Fetal Medicine Unit, Woman-Mother-Child Department, University Hospital Center CHUV, Lausanne, Switzerland.; Verellen-Dumoulin C; Eurocat Hainaut-Namur, Center for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Belgium.; Wertelecki W; OMNI-Net Programs, Rivne, Ukraine.; Wellesley D; University Hospitals Southampton, Southampton, UK.; Morris JK; School of Health and Medical Sciences, City St George's, University of London, London, UK.

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8709766 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-3016 (Electronic) Linking ISSN: 02695022 NLM ISO Abbreviation: Paediatr Perinat Epidemiol Subsets: MEDLINE

Morris, J.K.; Limb, E.; Bergman, J.E.H.; Barisic, I.; Wellesley, D.; Tucker, D.; Addor, M.-C.; Cavero-Carbonell, C.; Matias Dias, C.; Draper, E.S.; Echevarría-González-de-Garibay, L.J.; Gatt, M.; Klungsøyr, K.; Lelong, N.; Luyt, K.; Materna-Kiryluk, A.; Nelen, V.; Neville, A.; Perthus, I.; Pierini, A.; Randrianaivo-Ranjatoelina, H.; Rankin, J.; Rissmann, A.; Rouget, F.; Sayers, G.; Wertelecki, W.; Kinsner-Ovaskainen, A.; Garne, E.

In: European Journal of Human Genetics. (European Journal of Human Genetics, April 2024, 32(4):407-412)

Daire E; Pediatric Cardiology Department, Amiens University Hospital, Amiens, France. daire.elise@chu-amiens.fr.; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France. daire.elise@chu-amiens.fr.; Amiens-Picardie University Hospital, 1 Rond-Point du Pr Christian Cabrol, 80054, Amiens Cedex 1, France. daire.elise@chu-amiens.fr.; Sauvestre C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.; Moktadir A; Pediatric Cardiology Department, Amiens University Hospital, Amiens, France.; Bouvagnet P; Martinique University Hospital, Hôpital MFME, CPDPN, Fort-de-France, Martinique, France.; GCS AURAGEN, 69003, Lyon, France.; Brehin AC; Department of Anatomy and Pathological Cytology, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, 76000, Rouen, France.; Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, 76000, Rouen, France.; Chabaneix J; Medical and Surgical Unit for Congenital Heart Diseases in the Fetus, Child and Adult, ATENA Registry - Congenital Anomalies in Nouvelle-Aquitaine, Bordeaux University Hospital, Bordeaux, France.; Darwiche W; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.; Constitutional Genetics Laboratory, Amiens University Hospital, Amiens, France.; Dirani S; Pediatric Cardiology Department, Amiens University Hospital, Amiens, France.; Domanski O; Pediatric Cardiology Department, Lille University Hospital, Lille, France.; Gouy E; Department of Clinical Genetics, Lyon University Hospital, Lyon, France.; Hermida A; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.; Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France.; Jeanne M; Department of Clinical Genetics, Tours University Hospital, Tours, France.; Jobic F; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.; Department of Clinical Genetics, Amiens University Hospital, Amiens, France.; Jousselin K; Laboratoire de biologie médicale multi sites SeqOIA, Paris, France.; Julia S; Federative Institute of Biology, Toulouse University Hospital, Toulouse, France.; Marsili L; Université de Lille, ULR7364 RADEME, Hôpital Universitaire de Lille, Service de Génétique Clinique, Lille, France.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Messaoudi K; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.; Constitutional Genetics Laboratory, Amiens University Hospital, Amiens, France.; Michaud V; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.; GCS AURAGEN, 69003, Lyon, France.; Perthus I; Department of Clinical Genetics, Clermont-Ferrand Estaing University Hospital Center, Clermont Ferrand, France.; Rooryck C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.; Laboratoire de biologie médicale multi sites SeqOIA, Paris, France.; GCS AURAGEN, 69003, Lyon, France.; Jedraszak G; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.; Constitutional Genetics Laboratory, Amiens University Hospital, Amiens, France.; Laboratoire de biologie médicale multi sites SeqOIA, Paris, France.; GCS AURAGEN, 69003, Lyon, France.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

Goumy, C.; Ouedraogo, Z.G.; Eymard-Pierre, E.; Soler, G.; Pebrel-Richard, C.; Gouas, L.; Salaun, G.; Véronèse, L.; Tchirkov, A.; Bellemonte, E.; Perthus, I.; Laurichesse, H.; Darcha, C.

In: Diagnostics. (Diagnostics, December 2023, 13(23))

Goumy, C.; Guy Ouedraogo, Z.; Soler, G.; Eymard-Pierre, E.; Pebrel-Richard, C.; Gouas, L.; Salaun, G.; Véronèse, L.; Tchirkov, A.; Laurichesse, H.; Delabaere, A.; Gallot, D.; Bouchet, P.; Perthus, I.; Salse, J.

In: Clinica Chimica Acta. (Clinica Chimica Acta, 1 November 2023, 551)

GALLOT, D.; BODA, C.; UGHETTO, S.; PERTHUS, I.; ROBERT-GNANSIA, E.; FRANCANNET, C.; LAURICHESSE-DELMAS, H.; JANI, J.; COSTE, K.; DEPREST, J.; LABBE, A.; SAPIN, V.; LEMERY, D.

Ultrasound in Obstetrics and Gynecology. Mar 01, 2007 29(3):276-283

Plaisancié, J.; Chesneau, B.; Chassaing, N.; Martinovic, J.; Whalen, S.; Rodriguez, D.; Audebert-Bellanger, S.; Marzin, P.; Grotto, S.; Perthus, I.; Holt, R.J.; Bax, D.A.; Ragge, N.

In: Journal of Medical Genetics. (Journal of Medical Genetics, 16 August 2023, 61(1):84-92)

Gallot, D.; Boda, C.; Ughetto, S.; Perthus, I.; Robert-Gnansia, E.; Francannet, C.; Laurichesse-Delmas, D; Jani, J.; Coste, Karen; Deprest, D; Labbe, A.; Sapin, V.; Lemery, D.; Laurichesse-Delmas, H.; Deprest, J.

Ultrasound in Obstetrics & Gynecology. 29:276-283

Mamasoula, C.; Bigirumurame, T.; Chadwick, T.; Dias, C.M.; Pennington, L.; Rankin, J.; Addor, M.-C.; Cavero-Carbonell, C.; Echevarría-González-de-Garibay, L.-J.; Gatt, M.; Khoshnood, B.; Klungsoyr, K.; Randall, K.; Stoianova, S.; Haeusler, M.; Nelen, V.; Neville, A.J.; Perthus, I.; Pierini, A.; Bertaut-Nativel, B.; Rissmann, A.; Rouget, F.; Schaub, B.; Tucker, D.; Wellesley, D.; Zymak-Zakutnia, N.; Barisic, I.; de Walle, H.E.K.; Lanzoni, M.; Sayers, G.; Mullaney, C.

In: Birth Defects Research. (Birth Defects Research, 1 April 2023, 115(6):583-594)

Masson, J.; Beaumont, M.; Rollat-Farnier, P.-A.; Diguet, F.; Haye, D.; Dupeyron, M.-N.B.; Putoux, A.; Till, M.; Chatron, N.; Bardel, C.; Sanlaville, D.; Schluth-Bolard, C.; Pebrel-Richard, C.; Egloff, M.; Le Gudayer, G.; Frétigny, M.; Vinciguerra, C.; Uguen, K.; Perthus, I.; Raskin-Champion, F.; Doray, B.

In: Clinical Genetics. (Clinical Genetics, April 2023, 103(4):401-412)

Bergman, J.E.H.; Gerkes, E.H.; de Walle, H.E.K.; Barišić, I.; Addor, M.-C.; Braz, P.; Cavero-Carbonell, C.; Draper, E.S.; Echevarría-González-de-Garibay, L.J.; Gatt, M.; Haeusler, M.; Khoshnood, B.; Klungsøyr, K.; Kurinczuk, J.J.; Latos-Bielenska, A.; Luyt, K.; Rankin, J.; Martin, D.; Stevens, S.; Mullaney, C.; Nelen, V.; Neville, A.J.; O'Mahony, M.T.; Perthus, I.; Pierini, A.; Randrianaivo, H.; Rissmann, A.; Rouget, F.; Sayers, G.; Schaub, B.; Tucker, D.; Verellen-Dumoulin, C.; Wiesel, A.; Perraud, A.; Loane, M.A.; Wellesley, D.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, April 2023, 191(4):995-1006)

Coi, A.; Pierini, A.; Mezzasalma, L.; Santoro, M.; Barisic, I.; Odak, L.; Garne, E.; Addor, M.-C.; Aizpurua Atxega, A.; Ballardini, E.; Braz, P.; Broughan, J.M.; Rankin, J.; Cavero-Carbonell, C.; de Walle, H.E.K.; Draper, E.S.; Gatt, M.; Häusler, M.; Kinsner-Ovaskainen, A.; Kurinczuk, J.J.; Lelong, N.; Luyt, K.; Mullaney, C.; Nelen, V.; O'Mahony, M.T.; Perthus, I.; Randrianaivo, H.; Rissmann, A.; Rouget, F.; Schaub, B.; Tucker, D.; Wellesley, D.; Wiśniewska, K.; Yevtushok, L.

In: Journal of the European Academy of Dermatology and Venereology. (Journal of the European Academy of Dermatology and Venereology, March 2023, 37(3):581-589)

Morris, J.K.; Limb, E.; Wellesley, D.; Bergman, J.E.H.; Kinsner-Ovaskainen, A.; Addor, M.C.; Broughan, J.M.; Cavero-Carbonell, C.; Dias, C.M.; Echevarría-González-de-Garibay, L.-J.; Gatt, M.; Haeusler, M.; Barisic, I.; Klungsoyr, K.; Lelong, N.; Materna-Kiryluk, A.; Neville, A.; Nelen, V.; O'Mahony, M.T.; Perthus, I.; Pierini, A.; Rankin, J.; Rissmann, A.; Rouget, F.; Sayers, G.; Stevens, S.; Tucker, D.; Garne, E.

In: Birth Defects Research. (Birth Defects Research, 1 December 2022, 114(20):1417-1426)