Zobrazeno 1 - 10
of 47
pro vyhledávání: '"B. A. Zilfalil"'
Autor:
P. Kountouris, C. Stephanou, N. Archer, F. Bonifazi, V. Giannuzzi, K. Kuo, A. Maggio, J. Makani, M. D. M. Mañú Pereira, K. Michailidou, S. W. Nkya, O. Nnodu, S. Trompeter, L. Tshilolo, A. Wonkam, B. A. Zilfalil, B. Inusa, M. Kleanthous
Publikováno v:
HemaSphere, Vol 6, Pp 1363-1364 (2022)
Externí odkaz:
https://doaj.org/article/a4b0a8178156429f82193fac695e574e
Publikováno v:
The Medical journal of Malaysia. 74(4)
Long QT syndrome (LQTS) is predominantly a genetic cardiac arrhythmia disorder. We report here our study on long QT syndrome from two children from Kelantan, Malaysia. Clinical and genetic findings of these two unrelated Malay children with LQTS is d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::74b1f74382eb48afd21fffaab007b850
https://pubmed.ncbi.nlm.nih.gov/31424047
https://pubmed.ncbi.nlm.nih.gov/31424047
Publikováno v:
Internal medicine journal. 41(4)
This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::40ed3c40ecbdd721d39cc9af328b3d0a
https://pubmed.ncbi.nlm.nih.gov/21507164
https://pubmed.ncbi.nlm.nih.gov/21507164
Autor:
I, Salahshourifar, A S, Halim, W A W, Sulaiman, R, Ariffin, N, Naili Muhamad Nor, B A, Zilfalil
Publikováno v:
Cytogenetic and genome research. 134(2)
Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.Du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd7fa0b397d03264a9a3e4f89a3fb018
https://pubmed.ncbi.nlm.nih.gov/21447942
https://pubmed.ncbi.nlm.nih.gov/21447942
Publikováno v:
Singapore medical journal. 50(10)
This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages.56 couples with a history of at least two previous miscarriages were evaluated for preval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b91df9ab887268a53b941c619a5bd192
https://pubmed.ncbi.nlm.nih.gov/19907893
https://pubmed.ncbi.nlm.nih.gov/19907893
Autor:
R, Rozitah, M Z, Nizam, A R, Nur Shafawati, M A, Nor Atifah, M, Dewi, T P, Kannan, N, Ariffin, M, Norsarwany, I, Setianingsih, A, Harahap, B A, Zilfalil
Publikováno v:
Singapore medical journal. 49(12)
Beta-thalassaemia major is an autosomal recessive disorder that results in severe microcytic, hypochromic, haemolytic anaemia among affected patients. Beta-thalassaemia has emerged as one of the most common public health problems in Malaysia, particu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f0dfed34e7e6716ac8bdef007befb2b3
https://pubmed.ncbi.nlm.nih.gov/19122960
https://pubmed.ncbi.nlm.nih.gov/19122960
Autor:
M, Marini, A A, Salmi, M S, Watihayati, M D, SMardziah, M K, Zahri, B P, Hoh, R, Ankathil, P S, Lai, B A, Zilfalil
Publikováno v:
The Medical journal of Malaysia. 63(1)
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder characterized by rapidly progressive muscle weakness. The disease is caused by deletion, duplication or point mutation of the dystrophin gene, located on the X chromosome (Xp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73841ff7660fea4f973a8bd74ca7a588
https://pubmed.ncbi.nlm.nih.gov/18935728
https://pubmed.ncbi.nlm.nih.gov/18935728
Autor:
T P, Kannan, B Z, Azman, A B, Ahmad Tarmizi, M A, Suhaida, I, Siti Mariam, A, Ravindran, B A, Zilfalil
Publikováno v:
Singapore medical journal. 49(5)
Turner syndrome affects about one in 2,000 live-born females, and the wide range of somatic features indicates that a number of different X-located genes are responsible for the complete phenotype. This retrospective study highlights the Turner syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::904c2b64aa131ac9709680217dad4ac7
https://pubmed.ncbi.nlm.nih.gov/18465051
https://pubmed.ncbi.nlm.nih.gov/18465051
Publikováno v:
Singapore medical journal. 49(4)
We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission: one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation. Cytogenetic ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de5f827a92a5ab6e47c33c254413e39e
https://pubmed.ncbi.nlm.nih.gov/18418516
https://pubmed.ncbi.nlm.nih.gov/18418516
Autor:
B Z, Azman, R, Ankathil, I, Siti Mariam, M A, Suhaida, M, Norhashimah, A B, Tarmizi, M A, Nor Atifah, T P, Kannan, B A, Zilfalil
Publikováno v:
Singapore medical journal. 48(6)
This study was designed to evaluate the karyotype pattern, clinical features and other systemic anomalies of patients with Down syndrome in Malaysia.Retrospective analysis was performed on the case records of 149 patients confirmed as Down syndrome b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::77f1c65cc07a18dea240cfff4e719ead
https://pubmed.ncbi.nlm.nih.gov/17538755
https://pubmed.ncbi.nlm.nih.gov/17538755