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A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

BMC medical genetics, 2014-12, Vol.15 (1), p.133-133, Article 133

2014

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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

BMC medical genomics, 2021-11, Vol.14 (1), p.264-264, Article 264

2021

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Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Familial cancer, 2019-04, Vol.18 (2), p.261-265

2019

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Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

PloS one, 2014-04, Vol.9 (4), p.e93607-e93607

2014

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Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

BMC medical genetics, 2014-06, Vol.15 (1), p.71-71, Article 71

2014

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Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

BMC medical genetics, 2012-12, Vol.13 (1), p.120-120, Article 120

2012

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A homozygous missense variant in YTHDC2 induces azoospermia in two siblings

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.84, Article 84

2024

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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes

Molecular genetics and genomics : MGG, 2022-11, Vol.297 (6), p.1601-1613

2022

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Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1180-1184

2014

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Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Journal of medical genetics, 2015-09, Vol.52 (9), p.599-606

2015

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Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

European journal of medical genetics, 2013-07, Vol.56 (7), p.371-374

2013

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A Novel, Safe Way of Removing Non-Deflatable Bladder Catheter

Open journal of urology, 2012, Vol.2 (4), p.243-245

2012

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Study of renal tubular glycoconjugates in tubulointerstitial damage using conjugated lectins

The Journal of pathology, 1993-06, Vol.170 (2), p.187-196

1993

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β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan

Journal of pediatric hematology/oncology, 2012-03, Vol.34 (2), p.90-92

2012

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Renal tubular antiproteinase (alpha-1-antitrypsin and alpha-1-antichymotrypsin) response in tubulo-interstitial damage

Nephron (2015), 1993, Vol.65 (2), p.232-239

1993

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Morphometric study showing the importance of distal tubular damage in impaired creatinine clearance

American journal of nephrology, 1993, Vol.13 (3), p.178-183

1993

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Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis: e93607

PloS one, 2014-04, Vol.9 (4)

2014

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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Pakistan journal of medical sciences, 2011-09, Vol.27 (3), p.686

2011

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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Pakistan journal of medical sciences, 2011-06, Vol.27 (2)

2011

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Gastric tuberculosis with concomitant stromal tumour of stomach (GIST)

Journal of the College of Physicians and Surgeons--Pakistan, 2003-01, Vol.13 (1), p.48

2003

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An in situ cytomegalovirus DNA hybridisation study in IgA nephritis

Nephron (2015), 1991, Vol.59 (3), p.527-527

1991

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IgA nephropathy in Pakistan

Journal of the Pakistan Medical Association, 1990-02, Vol.40 (2), p.31-36

1990

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An approach toward decision-making and medical diagnosis problems using the concept of spherical fuzzy sets

Neural computing & applications, 2019-11, Vol.31 (11), p.7041-7053

2019

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Do green HRM practices influence employees' environmental performance?

International journal of manpower, 2020-11, Vol.41 (7), p.1061-1079

2020

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Valorisation and emerging perspective of biomass based waste-to-energy technologies and their socio-environmental impact: A review

Journal of environmental management, 2021-06, Vol.287, p.112257, Article 112257

2021

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A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

A homozygous missense variant in YTHDC2 induces azoospermia in two siblings

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

A Novel, Safe Way of Removing Non-Deflatable Bladder Catheter

Study of renal tubular glycoconjugates in tubulointerstitial damage using conjugated lectins

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan

Renal tubular antiproteinase (alpha-1-antitrypsin and alpha-1-antichymotrypsin) response in tubulo-interstitial damage

Morphometric study showing the importance of distal tubular damage in impaired creatinine clearance

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis: e93607

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Gastric tuberculosis with concomitant stromal tumour of stomach (GIST)

An in situ cytomegalovirus DNA hybridisation study in IgA nephritis

IgA nephropathy in Pakistan

An approach toward decision-making and medical diagnosis problems using the concept of spherical fuzzy sets

Do green HRM practices influence employees' environmental performance?

Valorisation and emerging perspective of biomass based waste-to-energy technologies and their socio-environmental impact: A review

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