المؤلفون: Deb, W.^1,2 (AUTHOR) wallid.deb@chu-nantes.fr, Joubert, M.³ (AUTHOR), Cogné, B.^1,2 (AUTHOR), Vincent, M.^1,2 (AUTHOR), Ghesh, L.⁴ (AUTHOR), Bézieau, S.^1,2 (AUTHOR), Le Vaillant, C.⁵ (AUTHOR), Beneteau, C.^4,6 (AUTHOR)

المصدر: European Journal of Medical Genetics. Jul2023, Vol. 66 Issue 7, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *FETAL presentation, *CONGENITAL disorders, *POLYCYSTIC kidney disease, *GENETIC counseling, *MUSCLE dysmorphia, *ABORTION

المؤلفون: Sauvestre, Fanny^1,2,3,4 fanny.sauvestre@u-bordeaux.fr, Marguet, Florent^1,2,3,4, Rooryck, Caroline^1,2,3,4, Vuillaume, Marie-Laure^1,2,3,4, Cardinaud, Frédéric^1,2,3,4, Laquerrière, Annie^1,2,3,4, André, Gwenaëlle^1,2,3,4, Pelluard, Fanny^1,2,3,4

المصدر: European Journal of Medical Genetics. Nov2017, Vol. 60 Issue 11, p605-609. 5p.

مصطلحات موضوعية: *DEVELOPMENTAL delay, *FETAL presentation, *DELETION mutation, *PREGNANCY, *NEUROLOGICAL disorders

المؤلفون: Hall, Christine M.^1,2 (AUTHOR), Liu, Becky³ (AUTHOR), Haworth, Andrea⁴ (AUTHOR), Reed, Laura⁴ (AUTHOR), Pryce, Jeremy⁵ (AUTHOR), Mansour, Sahar^1,6 (AUTHOR) smansour@sgul.ac.uk

المصدر: European Journal of Medical Genetics. Mar2021, Vol. 64 Issue 3, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *FETAL presentation, *FORELIMB, *ULTRASONIC imaging, *NEUROMYELITIS optica, *DYSPLASIA

المؤلفون: Rinaldi, Berardo¹ (AUTHOR), Race, Valerie² (AUTHOR), Corveleyn, Anniek² (AUTHOR), Van Hoof, Evelien² (AUTHOR), Bauters, Marijke² (AUTHOR), Van Den Bogaert, Kris² (AUTHOR), Denayer, Ellen² (AUTHOR), de Ravel, Thomy³ (AUTHOR), Legius, Eric² (AUTHOR), Baldewijns, Marcella⁴ (AUTHOR), Aertsen, Michael⁵ (AUTHOR), Lewi, Liesbeth⁶ (AUTHOR), De Catte, Luc⁶ (AUTHOR), Breckpot, Jeroen² (AUTHOR), Devriendt, Koenraad^1,2 (AUTHOR) koenraad.devriendt@uzleuven.be

المصدر: European Journal of Medical Genetics. May2020, Vol. 63 Issue 5, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *FETAL presentation, *MOLECULAR diagnosis, *DEVELOPMENTAL delay, *GENOMES

المؤلفون: Fanny Pelluard, Annie Laquerrière, Florent Marguet, Fanny Sauvestre, Gwenaëlle André, Frédéric Cardinaud, Caroline Rooryck, Marie-Laure Vuillaume

المصدر: European Journal of Medical Genetics. 60:605-609

مصطلحات موضوعية: 0301 basic medicine, Koolen De Vries syndrome, business.industry, General Medicine, Anatomy, Neuropathology, 030105 genetics & heredity, Fetal Presentation, Microdeletion syndrome, medicine.disease, Corpus callosum, Hydrocephalus, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Hypertelorism, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d22b41402df55d0696ec5b94485a80d8Test
https://doi.org/10.1016/j.ejmg.2017.08.012Test

المؤلفون: Cheng, Chen¹ (AUTHOR), Yang, Ying^1,2,3 (AUTHOR), Zhu, Xia¹ (AUTHOR), Yu, Xudong¹ (AUTHOR), Zhang, Tongda² (AUTHOR), Yang, Fan¹ (AUTHOR), Chen, Fang^2,3 (AUTHOR), Chen, Xinlin¹ (AUTHOR), Zhao, Sheng¹ (AUTHOR) 1015568495@qq.com, Guo, Jian^1,2 (AUTHOR) guojian@genomics.cn

المصدر: European Journal of Medical Genetics. Dec2020, Vol. 63 Issue 12, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *MICROCEPHALY, *NUCLEOTIDE sequencing, *FETAL presentation, *SPINDLE apparatus, *MAGNETIC resonance imaging, *MOLECULAR diagnosis, *CORD blood, *EXOMES

المؤلفون: Saugier-Veber, Pascale¹ (AUTHOR), Marguet, Florent² (AUTHOR), Vezain, Myriam³ (AUTHOR), Bucourt, Martine⁴ (AUTHOR), Letard, Pascaline⁵ (AUTHOR), Delahaye, Andrée⁵ (AUTHOR), Pipiras, Eva⁵ (AUTHOR), Frébourg, Thierry¹ (AUTHOR), Gonzalez, Bruno³ (AUTHOR), Laquerrière, Annie² (AUTHOR) annie.laquerriere@chu-rouen.fr

المصدر: European Journal of Medical Genetics. Apr2020, Vol. 63 Issue 4, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *SPINAL muscular atrophy, *MUSCULAR atrophy, *FETAL presentation, *DWARFISM, *DEVELOPMENTAL delay, *MOTOR neurons, *INTELLECTUAL disabilities

مصطلحات جغرافية: ROME