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List of works by Sajid Malik

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

scientific article published on 14 January 2020

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

scientific article published in August 2003

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

scientific article published on 09 August 2019

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin

scientific article published on 01 April 2004

A simple method for characterising syndactyly in clinical practice

scientific article published on 01 January 2005

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

scientific article published on 01 September 2010

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

scientific article published on 01 May 2005

CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN.

scientific article published on January 2016

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

scientific article published on 05 July 2013

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

scientific article published on 14 March 2017

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

scientific article published in September 2016

Congenital constriction ring of limbs in subjects with history of maternal substance use.

scientific article published in May 2015

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

scientific article

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

scientific article published in March 2013

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family

scientific article published on 10 January 2008

Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan

scientific article published on 20 May 2016

Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan

scientific article

Descriptive epidemiology of hereditary musculoskeletal and limb defects in the isolated population of Chitral, North-West Pakistan

scientific article

Determinants of Consanguinity and Inbreeding Coefficient F in Dir Lower District, North-West Pakistan: A Multivariate Approach

scientific article published on April 2016

Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries

scientific article published on 9 September 2015

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

article

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

scientific article published on 30 May 2018

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred

scientific article published on 14 November 2007

Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations.

scientific article published on 14 July 2015

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

scientific article published on 07 March 2018

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

scientific article published on 10 August 2020

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

scientific article published on 10 November 2017

Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers

scientific article

Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development

scientific article

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

scientific article published on 09 June 2022

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

scientific article published on 26 March 2018

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX.

scientific article published on 11 December 2017

Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan

scientific article

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene

scientific article

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

scientific article

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

scientific article published on 27 May 2017

PATTERN OF CONSANGUINITY AND INBREEDING COEFFICIENT IN SARGODHA DISTRICT, PUNJAB, PAKISTAN.

scientific article published on 9 October 2014

Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

scientific article published on March 2016

Polydactyly: phenotypes, genetics and classification

scientific article published on 18 October 2013

Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan

scientific article

Prevalence of Congenital Anomalies and Non-Communicable Diseases in Women of Age 12-75 Years in District Bhimber, Azad Jammu and Kashmir, Pakistan.

scientific article published on January 2014

Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan.

scientific article published on September 2014

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

scientific article

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

scientific article

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

scientific article

Study of non-syndromic thumb aplasia in six independent cases.

scientific article published on May 2014

Syndactyly: phenotypes, genetics and current classification

scientific article

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

scientific article

TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN - A RESPONSE TO STHANADAR ET AL. (2015).

scientific article published on 15 June 2015

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child

scientific article published on September 2013

Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression

scientific article

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