Genetic analysis of hypophosphatemic rickets in Malaysian patients through whole exome sequencing

Hypophosphatemic rickets (HR) is a rare subtype of rickets due to genetic defects in phosphate regulators. Low level of phosphate in the blood is due to low reabsorption and high excretion of phosphate by the kidneys. HR often manifests in childhood with skeletal deformities of rickets including bow...

Description complète

Détails bibliographiques
Auteur principal:	Nahid, Tavana
Format:	Thèse
Langue:	anglais
Publié:	2021
Sujets:	Rickets, Hypophosphatemic Genetics
Accès en ligne:	http://psasir.upm.edu.my/id/eprint/97711/1/FPSK%202021%205%20IR.pdf

Documents similaires

Whole exome sequencing analysis of cerebral palsy patients with underlying genetic factors
par: Azhar, Nur Atikah Nor
Publié: (2021)

Genetic studies on familial genetic generalized epilepsy: A whole exome sequencing approach / Chan Chung Kin
par: Chan, Chung Kin
Publié: (2021)

Genetic variation analysis of a primary immunodeficiency patient via whole-exome sequencing approach / Bader Abdul Kader El Farran
par: Bader Abdul Kader , El Farran
Publié: (2021)

Whole exome sequencing analysis of Malaysian monozygotic twin suspected with primary immunodeficiency diseases / Hamidah Abdul Ghani
par: Hamidah , Abdul Ghani
Publié: (2019)

Whole genome sequencing and analysis on the trios of the Che Wong and Semai: understanding the medico-genomic association / Rose Iszati Ismet Nayan
par: Ismet Nayan, Rose Iszati
Publié: (2017)

Whole genome sequencing, comparative genomics and virulence factors analyses of Meyerozyma guilliermondii strain soexpression system
par: Zainudin, Robiatul Azilah
Publié: (2021)

Genetic potential of selected sweet corn inbred lines and analysis of their combining ability assisted by microsatellite DNA markers
par: Kashiani, Pedram
Publié: (2012)

Optimisation of Genetic Transformation Parameters Through Microprojectile Bombardment Using Green Fluorescent Protein Reporter System in Dendrobium ‘Sonia 17’ Callus
par: Tee, Chong Siang
Publié: (2004)

Genetic variation of southeast asian crocodile, Tomistoma schlegelii Muller, using microsatellite and inter simple sequence repeat markers
par: Astani, Behnam Shafiei
Publié: (2015)

Analysis of genetic polymorphisms of TBX5, NKX2-5 and GATA4 cardiac transcription factor genes in Malaysian non syndromic congenital heart disease subjects
par: Khadhim, Nora F.
Publié: (2012)

Molecular genetics of the Peninsular Malaysian termite genus Odontotermes
par: Cheng, Shawn
Publié: (2011)

A block cipher based on genetic algorithm
par: Zakaria, Nur Hafiza
Publié: (2016)

Isolation, Characterization and Genetic Linkage Mapping of Microsatellite Markers in Mystus Nemurus
par: Hoh, Boon Peng
Publié: (2005)

Genetic differentiation of Malaysian oaks by microsatellite markers
par: Pung, Chai Chin
Publié: (2001)

Optimizing tree planting areas through integer programming and improved genetic algorithm
par: Md Badarudin, Ismadi
Publié: (2012)

Genetic Transformation Of Oncidium Sharry Baby Using Biolistic Method
par: Ng, Chea Yee
Publié: (2007)

Population genetic structures of Eleutheronema tetradactylum (Shaw, 1804) and Eleutheronema rhadinum (Jordan and Evermann, 1902) in Malaysian waters
par: Wahid, Nurul Atikah
Publié: (2019)

Quantitative genetics analysis and progeny testing of Deli dura × Serdang-AVROS pisifera for long stalk characteristic
par: W Rusik, Wan Rusydiah
Publié: (2019)

Homocysteine metabolism enzyme gene polymorphisms in non-syndromic Malaysian congenital heart disease patients
par: Mohamad, Nur Afiqah
Publié: (2013)

De novo assembly, annotation and analysis of transcriptome sequences of callus culture from Aquilaria malaccensis Lam.
par: Siah, Chai Har
Publié: (2015)

Genetic diversity and heritability estimate of Jatropha curcas L. accessions using agro-morphological and molecular markers
par: Arolu, Ibrahim Wasiu
Publié: (2012)

Genetic identification of purebred and crossbred water buffalo [Bubalus bubalis (linnaeus, 1758)] in selected farms in Malaysia
par: Shaari, Nor 'Ammar Liyana
Publié: (2019)

Occurrence, antibiotic resistance and genetic deiversity of arcobacter isolates from cattle and goats
par: Shah, Sayed Atta Hussain
Publié: (2012)

Quantitative genetic analysis and rice kernel elongation improvement in MR219 × Mahsuri Mutan and MR219 × Basmati 370 populations
par: Ab Halim, Anna Arina
Publié: (2019)

Genetic diversity and development of high fiber yield kenaf (Hibiscus cannabinus L.) mutant hybrids through diallel crosses
par: Al-Mamun, Md.
Publié: (2022)

Crossability and genetic analyses of Andrographis paniculata nees. populations using phenotypic and molecular markers
par: Valdiani, Alireza
Publié: (2012)

Development of A PCR - Cycle Sequencing System for Animal Mitochondrial DNA Analysis
par: Lau, Chin Hoon
Publié: (1994)

Genetic analysis of F₂ population from crosses between Pongsu Seribu 2 and MR264 on blast disease / Norain Mohd Nor
par: Mohd Nor, Norain
Publié: (2018)

Determination Of The Nucleotide Sequence Of Recombinant Plasmid Pbx6 Containing A Xylanase Gene From Fibrobacter Succinogenes S 85
par: Suryadi, Yadi
Publié: (2001)

Design of radix-4 single path delay fast fourier transform processor with genetic algorithms optimization
par: Pang, Jia Hong
Publié: (2011)

Analysis of genetic polymorphism as risk factor of diabetes nephropathy among type 2 diabetic patients of a tertiary hospital
par: Yahya, Mohd Jokha
Publié: (2017)

Molecular Genetics Study Of Prostaglandin F2a Receptor Gene In Glaucomatous Patients In Malaysia [QH442. N737 2008 f rb].
par: Zahary, Mohd Nizam
Publié: (2008)

Detection, susceptibility testing and whole genome sequencing of mycobacterium tuberculosis isolated from cerebrospinal fluid of patients with suspected tuberculous meningitis
par: Noraini Philip
Publié: (2016)

Detection, susceptibility testing and whole genome sequencing of Mycobacterium tuberculosis isolated from cerebrospinal fluid of patients with suspected tuberculous meningtis
par: Noraini Philip
Publié: (2016)

Analysis of Genetic Polymorphisms as Risk Factors in Essential Hypertension and Type 2 Diabetes Mellitus among Malaysians
par: Vasudevan, R.
Publié: (2009)

Isolation of Ethylene Response Sensor Gene and Generation of Expressed Sequence Tags from the Oil Palm (Elaies Guineensis Jacq.) Mesocarp
par: Abdul Wahab, Nurniwalis
Publié: (2006)

Genetic and molecular analyses for oryza sativa L. cv. MRQ74 frangrance trait through quantitative trait Loci mapping using gene-based and microsatellite markers
par: Golestan Hashemi, Farahnaz Sadat
Publié: (2015)

Morphometric Analysis and Population Genetics of Mahisefid (Rutilus Frisii Kutum Kamensky,1901) in South of Caspian Sea
par: Abdolhay, Hossein Ali
Publié: (2010)

Genetic and Morphometric Variation of Marine Prawns, Penaeus Monodon Fabricius and Fenneropenaeus Merguiensis De Man in Malaysian Waters
par: Aziz, Dania
Publié: (2011)

Biochemical Differentiation of Cocoa Cotyledon Proteins from Various Genetic Origins
par: Ismail, Amin
Publié: (2000)

Cannot write session to /tmp/vufind_sessions/sess_4age9s7ocp716cp8gkol08gcfe