Lista de obras - Bin Alwi Zilfalil - Dominio Público Uruguay

A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population

artículo científico publicado en 2010

A simple and rapid genotyping method for beta-2 receptor (beta2 AR) gene using allele specific multiplex PCR.

artículo científico publicado en 2004

A whole genome analyses of genetic variants in two Kelantan Malay individuals

artículo científico publicado en 2014

Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.

artículo científico publicado en 2012

An improved rapid genotyping method for the study of beta-2 adrenergic receptor gene polymorphisms using single tube allele specific multiplex PCR.

artículo científico publicado en 2006

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

artículo científico publicado en 2011

Chromosomal alterations in Malaysian patients with nasopharyngeal carcinoma analyzed by comparative genomic hybridization ⬇️

artículo científico publicado el 1 de diciembre de 2010

Clinical manifestations in trisomy 9

artículo científico publicado en 2009

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

artículo científico publicado en 2008

Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1

artículo científico publicado en 2011

Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population

artículo científico publicado en 2011

De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

artículo científico publicado en 2011

Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients

scientific article published on 01 February 2007

Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy

artículo científico publicado en 2011

Dissecting the genetic structure and admixture of four geographical Malay populations.

artículo científico publicado en 2015

Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies

artículo científico publicado en 2015

Gastric precancerous lesions are associated with gene variants in Helicobacter pylori-susceptible ethnic Malays.

artículo científico publicado en 2013

Genetic polymorphism of CYP2D6 in patients with cardiovascular disease -- a cohort study.

artículo científico publicado en 2004

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience

artículo científico publicado en 2016

Human Variome Project country nodes: documenting genetic information within a country

artículo científico publicado en 2012

Mapping human genetic diversity in Asia

artículo científico publicado en 2009

Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.

artículo científico publicado en 2010

Molecular description of familial defective APOB-100 in Malaysia.

artículo científico publicado en 2013

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

artículo científico publicado en 2013

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia

artículo científico publicado en 2013

Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy

artículo científico publicado en 2010

Population genetic structure of peninsular Malaysia Malay sub-ethnic groups

artículo científico publicado en 2011

Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli

artículo científico publicado en 2011

RB pocket domain B mutation frequency in Malaysia.

artículo científico publicado en 2010

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

artículo científico publicado en 2017

Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography.

artículo científico publicado en 2008

The first Malay database toward the ethnic-specific target molecular variation

artículo científico publicado en 2015

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia

artículo científico publicado en 2014

Towards understanding the low prevalence of Helicobacter pylori in Malays: genetic variants among Helicobacter pylori-negative ethnic Malays in the north-eastern region of Peninsular Malaysia and Han Chinese and South Indians.

artículo científico publicado en 2013

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia

artículo científico publicado en 2008

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family

scientific article published on 08 April 2011

Lista de obras de Bin Alwi Zilfalil

A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population

A simple and rapid genotyping method for beta-2 receptor (beta2 AR) gene using allele specific multiplex PCR.

A whole genome analyses of genetic variants in two Kelantan Malay individuals

Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.

An improved rapid genotyping method for the study of beta-2 adrenergic receptor gene polymorphisms using single tube allele specific multiplex PCR.

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

Chromosomal alterations in Malaysian patients with nasopharyngeal carcinoma analyzed by comparative genomic hybridization ⬇️

Clinical manifestations in trisomy 9

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1

Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population

De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients

Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy

Dissecting the genetic structure and admixture of four geographical Malay populations.

Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies

Gastric precancerous lesions are associated with gene variants in Helicobacter pylori-susceptible ethnic Malays.

Genetic polymorphism of CYP2D6 in patients with cardiovascular disease -- a cohort study.

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience

Human Variome Project country nodes: documenting genetic information within a country

Mapping human genetic diversity in Asia

Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.

Molecular description of familial defective APOB-100 in Malaysia.

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia

Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy

Population genetic structure of peninsular Malaysia Malay sub-ethnic groups

Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli

RB pocket domain B mutation frequency in Malaysia.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography.

The first Malay database toward the ethnic-specific target molecular variation

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia

Towards understanding the low prevalence of Helicobacter pylori in Malays: genetic variants among Helicobacter pylori-negative ethnic Malays in the north-eastern region of Peninsular Malaysia and Han Chinese and South Indians.

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family