Search Results - "Nadeem Saqib, Muhammad Arif"
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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Published in Human genetics (01-09-2018)“…Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been…”
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Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3
Published in Japanese journal of ophthalmology (01-11-2011)“…Background To identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive ACHM. Methods Four families…”
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Dietary patterns of Pakistani adults and their associations with sociodemographic characteristics-a community based study
Published in Journal of the Pakistan Medical Association (01-11-2022)“…To identify the dietary patterns and understand their association with sociodemographic characteristics among adults. The community-based cross-sectional study…”
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COVID‐19 and dengue virus coepidemics in Pakistan: A dangerous combination for an overburdened healthcare system
Published in Journal of medical virology (01-01-2021)Get full text
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Community-Based Assessment of Knowledge, Attitude, Practices and Risk Factors Regarding COVID-19 Among Pakistanis Residents During a Recent Outbreak: A Cross-Sectional Survey
Published in Journal of community health (01-06-2021)“…Exceptional precautionary measures have been adopted to stop the transmission and control of COVID-19 through the world and Pakistan is facing lockdown in this…”
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Published in American journal of human genetics (06-02-2020)“…Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that…”
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SARS‐CoV‐2 and the hidden carriers: Sewage, feline, and blood transfusion
Published in Journal of medical virology (01-11-2020)Get full text
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COVID‐19 and Tuberculosis overlapping epidemics: A holistic review from Pakistan
Published in Journal of medical virology (01-05-2021)Get full text
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Karachi Cancer Registry (KCR): Age-Standardized Incidence Rate by Age-Group and Gender in a Mega City of Pakistan
Published in Asian Pacific journal of cancer prevention : APJCP (01-11-2020)Get full text
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Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review
Published in BMC endocrine disorders (11-11-2021)“…Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY…”
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Mutation of ATF6 causes autosomal recessive achromatopsia
Published in Human genetics (01-09-2015)“…Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently…”
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Dual Burden of Tobacco Consumption in Pakistan; Time to Act
Published in Journal of the Pakistan Medical Association (01-05-2018)Get full text
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Comparison of Tobacco Consumption among Adults in SAARC Countries (Pakistan, India and Bangladesh)
Published in Journal of the Pakistan Medical Association (01-05-2018)“…To compare the findings of Global adult tobacco surveys (GATS) conducted in SAARC Countries. The national representative data from Pakistan, India, and…”
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Prevalence of Smokeless Tobacco Use in Pakistan: Insight from the Global Adult Tobacco Survey Pakistan (GATS Pakistan-2014)
Published in Journal of the Pakistan Medical Association (01-05-2018)“…Prevalence of tobacco consumption is increasing including both smoked and smokeless tobacco. The objective of this paper is to highlight the prevalence of…”
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Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability
Published in Frontiers in genetics (28-04-2022)“…Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in…”
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Seroprevalence of Transplacentally acquired Measles antibodies in unvaccinated infants at nine months of age and its relation to the feeding practices
Published in BMC infectious diseases (05-07-2019)“…In recent years Pakistan has faced frequent measles outbreaks killing hundreds of children despite the availability of vaccine for decades. This study was…”
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Exposure of the Adult Pakistani Population to Second-Hand Smoke - An insight from Global Adult Tobacco Survey of Pakistan 2014
Published in Journal of the Pakistan Medical Association (01-05-2018)“…About one-third of the world population is exposed to second hand smoke (SHS) with estimated 600,000 annual deaths. The objective of this article is to…”
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Determinants of Smoked Tobacco Consumption among Pakistani Adults: An Analysis from GATS Pakistan 2014
Published in Journal of the Pakistan Medical Association (01-05-2018)“…An in-depth analysis of GATS 2014 is performed to study the various demographic determinants of smoked tobacco consumption among Pakistani adults. The Global…”
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Genetic characterization of suspected MODY patients in Pakistan by next generation sequencing—a pilot study
Published in International journal of diabetes in developing countries (01-10-2021)“…Background Maturity onset diabetes of the young (MODY) is the genetic form of diabetes inherited in autosomal dominant pattern. The diagnosis of MODY is…”
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Comparison of vitamin D levels with bone density, calcium, phosphate and alkaline phosphatase - an insight from major cities of Pakistan
Published in Journal of the Pakistan Medical Association (01-04-2018)“…To compare vitamin D levels with bone mineral density, serum calcium, phosphorous and alkaline phosphatase. The cross-sectional multicentre study was conducted…”
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