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...

書目詳細資料
主要作者:	Nahid, Tavana
格式:	Thesis
語言:	英语
出版:	2021
主題:	Rickets, Hypophosphatemic Genetics
在線閱讀:	http://psasir.upm.edu.my/id/eprint/97711/1/FPSK%202021%205%20IR.pdf

相似書籍

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

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

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

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

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

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

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

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

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

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

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

A block cipher based on genetic algorithm
由: Zakaria, Nur Hafiza
出版: (2016)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Cannot write session to /tmp/vufind_sessions/sess_vsrdhqtc8l7h2bkb1c501a6k8h