المؤلفون: Parthasarathy, Amudha^Aff4, Raju, Muthuvel^Aff5, Kulanthaivel, Langeswaran^Aff6, Subbaraj, Gowtham Kumar^Aff7

المساهمون: Umair, Muhammad, editor^Aff1, Rafeeq, Misbahuddin, editor^Aff2, Alam, Qamre, editor^Aff3

المصدر: Rare Genetic Disorders : Advancements in Diagnosis and Treatment. :1-33

المؤلفون: Shruti Prakash Kapatkar, Renu Rathi, Swecha Choudhary

المصدر: Journal of Clinical and Diagnostic Research, Vol 18, Iss 05, Pp 01-05 (2024)

مصطلحات موضوعية: adibala-pravrutta vyadhi, chromosomal disorder, congenital myopathy, dystrophin, maamsadhatu shosha, muscular diseases, Medicine

وصف الملف: electronic resource

Relation: https://jcdr.net/articles/PDF/19412/67780_CE[Ra1]_F(SS)_PF1(KB_DK_OM)_redo_Ref_Pat(OM)_PFA(OM)_PB(KB_OM)_PN(OM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/dacf762044244a2b8d64f0f8722ad628

المؤلفون: Azli Ismail, Fadly Ahid, Meow-Keong Thong, Zubaidah Zakaria

المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Array-CGH, Congenital chromosomal disorder, Dysmorphism, Intellectual disability, 18q- deletion syndrome, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/20d972eacc62480b92575232b3f0d2ef

المؤلفون: Chenxia Xu, Miaoyuan Li, Jianming Peng, Yanfang Zhang, Haijun Li, Guobing Zheng, Degang Wang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: aneuploid, complete trisomy 9, chromosomal disorder, prenatal diagnosis, genetic counseling, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1241245/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5a400c22892349f09a1287253fe94825

المؤلفون: Rezaeizadeh, Tina, Delshad, Encieh^{Aff1, IDs11033021069336_cor2}, Mansour Samaei, Nader^{Aff1, Aff2}, Gholipour, Naghmeh

المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 49(2):1085-1088

المؤلفون: Maarten Otter, Peter M. L. Crins, Bea C. M. Campforts, Constance T. R. M. Stumpel, Thérèse A. M. J. van Amelsvoort, Claudia Vingerhoets

المصدر: BJPsych Open, Vol 7 (2021)

مصطلحات موضوعية: Triple X syndrome, autistic spectrum disorders, genetics, sex chromosomal disorder, emotion recognition, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2056472421000089/type/journal_article; https://doaj.org/toc/2056-4724

URL الوصول: https://doaj.org/article/bda68570f5e54474a8b64577a8d296c6

المؤلفون: Junxian Fu, Ting Wang, Zhuo Fu, Tianxia Li, Xiaomeng Zhang, Jingjing Zhao, Guanglu Yang

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: 3p deletion syndrome, chromosomal disorder, BRPF1 gene deletion, mental developmental retardation, ptosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.618059/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/f5a4d61a864940b2bc7808536428d6d1

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المؤلفون: Shokouh Shahrokhi Sabzevar, Farzaneh Mirzaei, Mohammad Hossein Tanipour, Atiyeh Eslahi, Mohammad Hasanzadeh Nazarabadi

المصدر: Case Reports in Clinical Practice, Vol 5, Iss 2 (2020)

مصطلحات موضوعية: Turner syndrome, Pregnancy, Mosaicism, Abortion, Chromosomal disorder, Medicine

وصف الملف: electronic resource

Relation: https://crcp.tums.ac.ir/index.php/crcp/article/view/328; https://doaj.org/toc/2538-2683; https://doaj.org/toc/2538-2691

URL الوصول: https://doaj.org/article/4672b37e09c6401b9fee3a965e213c38

المؤلفون: Yuko Tamaki, Yukiko Katagiri, Nahomi Umemura, Naoki Takeshita, Mineto Morita

المصدر: Case Reports in Women's Health, Vol 27, Iss , Pp e00236- (2020)

مصطلحات موضوعية: Chromosomal disorder, Copy number variation, Isochromosome of chromosome 18, Noninvasive prenatal testing, Tetrasomy 18p, Surgery, RD1-811, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214911220300667; https://doaj.org/toc/2214-9112

URL الوصول: https://doaj.org/article/249510d3aecc42e8921a9a9153373b06