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A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin

Congenital anomalies, 2023-11, Vol.63 (6), p.190-194

2023

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A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

Clinical genetics, 2019-04, Vol.95 (4), p.540-541

2019

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In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis

PloS one, 2014-08, Vol.9 (8), p.e104756-e104756

2014

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Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

Pediatrics international, 2018-03, Vol.60 (3), p.304-306

2018

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Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

Journal of human genetics, 2016-03, Vol.61 (3), p.207-213

2016

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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Human genetics, 2018-07, Vol.137 (6-7), p.471-478

2018

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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Biotechnology and applied biochemistry, 2022-12, Vol.69 (6), p.2296-2303

2022

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Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

International journal of dermatology, 2023-05, Vol.62 (5), p.672-680

2023

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Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

Journal of genetics, 2017-12, Vol.96 (6), p.1005-1014

2017

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The genetic cause of neurodevelopmental disorders in 30 consanguineous families

Frontiers in medicine, 2024-08, Vol.11, p.1424753

2024

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Disease causing homozygous variants in the human hairless gene

International journal of dermatology, 2016-09, Vol.55 (9), p.977-981

2016

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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

International journal of ophthalmology, 2021-12, Vol.14 (12), p.1843-1851

2021

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Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

Journal of dermatological science, 2015-08, Vol.79 (2), p.173-175

2015

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Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis

Pediatric dermatology, 2016-01, Vol.33 (1), p.e40-e42

2016

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Spectrofluorimetric Method for Quantification of Triazine Herbicides in Agricultural Matrices

Analytical Sciences, 2016/03/10, Vol.32(3), pp.313-316

2016

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Vortex-assisted liquid-liquid microextraction of selected non-steroidal anti-inflammatory drugs using supramolecular solvent

Desalination and water treatment, 2022-06, Vol.261, p.289-298

2022

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A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

Clinical genetics, 2019-04, Vol.95 (4), p.540-541

2019

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FREQUENCY, DISTRIBUTION AND DETERMINANTS OF IRON DEFICIENCY ANEMIA AMONG THIRD TRIMESTER INDOOR PREGNANT WOMEN

Gomal journal of medical sciences, 2018-09, Vol.16 (3), p.79-82

2018

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The Effects of Pre-emptive Bupivacaine Infiltration of the Nephrostomy Tract in Patients undergoing Percutaneous Nephrolithotomy:A Randomized Controlled Study

International journal of endorsing health science research, 2016-09, Vol.4 (3), p.12-18

2016

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Sequence variants in DLX5, HOXD13 and 445kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Clinical genetics, 2024-01, Vol.105 (1), p.109-111

2024

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Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Clinical genetics, 2024-01, Vol.105 (1), p.109-111

2024

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Sequence variants in GDF 5 and TRPS 1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

Pediatrics international, 2018-03, Vol.60 (3), p.304-306

2018

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Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

Pediatric research, 2017-11, Vol.82 (5), p.753-758

2017

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Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

Molecular vision, 2017-07, Vol.23, p.482-494

2017

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Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1223-1227

2016

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A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

The genetic cause of neurodevelopmental disorders in 30 consanguineous families

Disease causing homozygous variants in the human hairless gene

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis

Spectrofluorimetric Method for Quantification of Triazine Herbicides in Agricultural Matrices

Vortex-assisted liquid-liquid microextraction of selected non-steroidal anti-inflammatory drugs using supramolecular solvent

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

FREQUENCY, DISTRIBUTION AND DETERMINANTS OF IRON DEFICIENCY ANEMIA AMONG THIRD TRIMESTER INDOOR PREGNANT WOMEN

The Effects of Pre-emptive Bupivacaine Infiltration of the Nephrostomy Tract in Patients undergoing Percutaneous Nephrolithotomy:A Randomized Controlled Study

Sequence variants in DLX5, HOXD13 and 445kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Sequence variants in GDF 5 and TRPS 1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

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