المؤلفون: Asaranti Kar, Shreya Rath, Pallavi Bhuya, Sasmita Panda, Tushar Kar, Lity Mohanty, Lilabati Guru

المصدر: Indian Journal of Neonatal Medicine and Research, Vol 12, Iss 01, Pp 01-07 (2024)

مصطلحات موضوعية: cytogenetics, down syndrome, dysmorphology, meckel gruber syndrome, neural tube defects, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.ijnmr.net/articles/PDF/2403/65084_CE[Ra1]_F(SHU)_QC_Ref(AN_SHU)_PF1(RI_SHU)_PFA(SHU)_PB(RI_SHU)_PN(SHU).pdf; https://doaj.org/toc/2277-8527; https://doaj.org/toc/2455-6890

URL الوصول: https://doaj.org/article/664295279a6047308d9fdcc6472725c5

المؤلفون: König, Jens^Aff3, Omran, Heymut^Aff3

المساهمون: Schaefer, Franz, editor^Aff1, Greenbaum, Larry A., editor^Aff2

المصدر: Pediatric Kidney Disease. :349-370

المؤلفون: Atakir, Kadir^{Aff1, IDs4055602200350w_cor1}, Atakir, Emine Aylin

المصدر: Journal of Fetal Medicine. 9(3-4):75-78

المؤلفون: Hong, Zhidan, He, Xuanyi, Yu, Fang, Liu, Huanyu, Zhang, Xiaoli, Zhang, Yuanzhen^{Aff1, IDs43032021008355_cor6}

المصدر: Reproductive Sciences. 29(8):2322-2332

المؤلفون: Simonini, Corinna^{Aff1, IDs00404021062657_cor1}, Floeck, Anne, Strizek, Brigitte, Mueller, Andreas, Gembruch, Ulrich, Geipel, Annegret

المصدر: Archives of Gynecology and Obstetrics. 306(1):71-83

المؤلفون: Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: cilia, ciliopathies, RPGRIP1L, meckel-gruber syndrome, ciliary defects, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.982127/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/a37b587c367a462683911b5338081a1f

المؤلفون: Malika Leneuve‐Dorilas, Patrick Ahounkeng Nanda, Jean‐Luc Deshayes

المصدر: Clinical Case Reports, Vol 8, Iss 3, Pp 433-436 (2020)

مصطلحات موضوعية: Differential diagnosis, Genetic screening, Meckel‐Gruber syndrome, Prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/f469a243c66e42c99515dc1f87a048e5

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المؤلفون: Chen, Harold^Aff2

المساهمون: Chen, Harold^Aff1

المصدر: Atlas of Genetic Diagnosis and Counseling. :1809-1814

المؤلفون: Nicolas-Jilwan, Manal^Aff1, Al-Ahmari, Ahmed Nasser, Alowain, Mohammed Abdulaziz, Altuhaini, Khaled Saleh, Alshail, Essam Abdulaziz

المصدر: Child's Nervous System. 35(7):1257-1261