Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Sami, Amr"'
Autor:
Anne Giersch, Sami Amr, Kevin Booth, Matthew Hoi Kin Chau, Yvonne Chekaluk, Richard Choy, Michael Cohen, Elvis Dong, Jennifer Hochschild, Margaret Kenna, Lauren McGrath, Caroline Mitchell, Julia Perry, Aiden Shearer, Jun Shen, Matthew Stenerson, Cynthia Morton
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100203- (2023)
Externí odkaz:
https://doaj.org/article/94fd3d2457a6493da9eb756120a782ce
Autor:
Kalotina Machini, Limin Hao, Hana Zook, Lisa Mahanta, Heather Mason-Suares, Anna Nagy, Heidi Rehm, Sami Amr, Matthew Lebo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100551- (2023)
Externí odkaz:
https://doaj.org/article/828298ec87a94ee5b802761e729608e7
Autor:
Calli O. Mitchell, Greysha Rivera-Cruz, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Anne B. S. Giersch, Cynthia C. Morton
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 36 (2022)
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the int
Externí odkaz:
https://doaj.org/article/507ffb223c5746caba03c4aec6ea2a0c
Autor:
Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challengi
Externí odkaz:
https://doaj.org/article/52aa1d76770348c28ddef0fcb4d7fab1
Autor:
Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 76-79 (2017)
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been
Externí odkaz:
https://doaj.org/article/227e7db14c67492882249125ee477272
Publikováno v:
SAE International Journal of Materials and Manufacturing, 2016 May 01. 9(2), 330-337.
Externí odkaz:
https://www.jstor.org/stable/26267445
Publikováno v:
SAE International Journal of Materials and Manufacturing, 2016 May 01. 9(2), 321-329.
Externí odkaz:
https://www.jstor.org/stable/26267444
Autor:
Awrad Mohammed-Reda Nasralla, Mohammed Abdulirazzaq Al-Duhileb, Ali Jamal-Aldein Arini, Samir Sami Amr
Publikováno v:
Case Reports in Surgery, Vol 2017 (2017)
A 44-year-old woman presented with marked erythema over right mastectomy scar, while on Herceptin therapy. She had neoadjuvant chemotherapy, modified radical mastectomy, and radiotherapy less than one year earlier for the treatment of invasive ductal
Externí odkaz:
https://doaj.org/article/26eea32f44664731aa898a06c64e2f5f
Autor:
Melanie A. Jones, Sami Amr, Aerial Ferebee, Phung Huynh, Jill A. Rosenfeld, Michael F. Miles, Andrew G. Davies, Christopher A. Korey, John M. Warrick, Rita Shiang, Sarah H. Elsea, Santhosh Girirajan, Mike Grotewiel
Publikováno v:
Biology Open, Vol 3, Iss 5, Pp 342-352 (2014)
Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram Syndrome 1 (WFS1) and CDGSH ir
Externí odkaz:
https://doaj.org/article/a4737ab2ef95465db24c433f7bac1e30
Publikováno v:
Molecular Genetics and Metabolism. 132:S220-S221
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1023bcaa05db7743232b51da3113cde8
https://doi.org/10.1016/s1096-7192(21)00426-1
https://doi.org/10.1016/s1096-7192(21)00426-1