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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science (American Association for the Advancement of Science), 2014-01, Vol.343 (6170), p.506-511

2014

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A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

Journal of human genetics, 2020-05, Vol.65 (5), p.493-496

2020

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

American journal of human genetics, 2016-10, Vol.99 (4), p.912-916

2016

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Nature genetics, 2015-05, Vol.47 (5), p.528-534

2015

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Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science (American Association for the Advancement of Science), 2024-05, Vol.384 (6695), p.584-590

2024

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Exome sequencing can improve diagnosis and alter patient management

Science translational medicine, 2012-06, Vol.4 (138), p.138ra78

2012

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Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Journal of medical genetics, 2020-04, Vol.57 (4), p.274-282

2020

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5 versus 10 days of treatment with ceftriaxone for bacterial meningitis in children: a double-blind randomised equivalence study

The Lancet (British edition), 2011, Vol.377 (9780), p.1837-1845

2011

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

eLife, 2015-05, Vol.4, p.e06602-e06602

2015

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Piracetam in severe breath holding spells

International journal of psychiatry in medicine, 2008-01, Vol.38 (2), p.195-201

2008

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Nature genetics, 2016-09, Vol.48 (9), p.1071-1076

2016

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1436-1456

2024

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

American journal of human genetics, 2008-04, Vol.82 (4), p.1011-1018

2008

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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Use of ACTH and prednisolone in infantile spasms: Experience from a developing country

Seizure (London, England), 2005-12, Vol.14 (8), p.552-556

2005

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Intracranial tuberculomas and caries spine: an experience from Children's Hospital Islamabad

Journal of Ayub Medical College, Abbottabad, 2004-10, Vol.16 (4), p.7-11

2004

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CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

American journal of human genetics, 2008-11, Vol.83 (5), p.656-656

2008

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Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

American journal of human genetics, 2008-11, Vol.83 (5), p.656-656

2008

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-[beta]-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909

2009

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-b-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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Cerebral infarction in infants and children: clinical features, CT and EEG findings

Indian journal of pediatrics, 1998-03, Vol.65 (2), p.173-180

Azam, M

1998

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Adrenoleukodystrophy: case report

Journal of the Pakistan Medical Association, 1998-04, Vol.48 (4), p.110-112

Azam, M

1998

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Topological requirements for open complex formulation at #sigma#'5'4-dependent promoters

Qureshi, Matloob Azam

1996

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Exome sequencing can improve diagnosis and alter patient management

Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

5 versus 10 days of treatment with ceftriaxone for bacterial meningitis in children: a double-blind randomised equivalence study

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Piracetam in severe breath holding spells

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Use of ACTH and prednisolone in infantile spasms: Experience from a developing country

Intracranial tuberculomas and caries spine: an experience from Children's Hospital Islamabad

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-[beta]-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-b-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Cerebral infarction in infants and children: clinical features, CT and EEG findings

Adrenoleukodystrophy: case report

Topological requirements for open complex formulation at #sigma#'5'4-dependent promoters

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