Asmat Ullah

United States

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Articles (13)

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Collaborators (10)

Cilius Fonvig

University of Southern Denmark

DENMARK

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Lars Ängquist

Københavns Universitet

DENMARK

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Frederik Filip Stæger

Københavns Universitet

DENMARK

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Oluf Pedersen

Københavns Universitet

DENMARK

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Sufyan Suleman

Københavns Universitet

DENMARK

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Outi Mäkitie

Karolinska Institutet

SWEDEN

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Louise Aas Holm

Københavns Universitet

DENMARK

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Anna Jonsson

Københavns Universitet

DENMARK

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Niels Grarup

Københavns Universitet

DENMARK

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Sara Elizabeth Stinson

Københavns Universitet

DENMARK

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Asmat Ullah

Research Interests

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Articles (13)

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families

Genetics of Plasma Bilirubin and Associations between Bilirubin and Cardiometabolic Risk Profiles in Danish Children and Adolescents

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

Clinical exome sequencing reveals a novel pathogenic variant in <i>KIF12</i> underlying cholestasis with highly variable phenotypes

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms

Identification of a Novel Nonsense Variant in the <b><i>DLL3</i></b> Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain

Collaborators (10)

Cilius Fonvig

Lars Ängquist

Frederik Filip Stæger

Oluf Pedersen

Sufyan Suleman

Outi Mäkitie

Louise Aas Holm

Anna Jonsson

Niels Grarup

Sara Elizabeth Stinson

Make your next move.

Asmat Ullah

Research Interests

Explore related searches

Contact this professor

Articles (13)

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families

Genetics of Plasma Bilirubin and Associations between Bilirubin and Cardiometabolic Risk Profiles in Danish Children and Adolescents

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

Clinical exome sequencing reveals a novel pathogenic variant in <i>KIF12</i> underlying cholestasis with highly variable phenotypes

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms

Identification of a Novel Nonsense Variant in the &lt;b&gt;&lt;i&gt;DLL3&lt;/i&gt;&lt;/b&gt; Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain

Collaborators (10)

Cilius Fonvig

Lars Ängquist

Frederik Filip Stæger

Oluf Pedersen

Sufyan Suleman

Outi Mäkitie

Louise Aas Holm

Anna Jonsson

Niels Grarup

Sara Elizabeth Stinson

Make your next move.

Identification of a Novel Nonsense Variant in the <b><i>DLL3</i></b> Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family