Lista de obras - Paldeep S Atwal - Dominio Público Uruguay

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

artículo científico publicado en 2017

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

artículo científico publicado en 2017

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

scientific article published on 25 January 2020

Clinical whole-exome sequencing: are we there yet?

artículo científico publicado en 2014

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

artículo científico publicado en 2017

Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

artículo científico publicado en 2018

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

artículo científico publicado en 2020

Expanded phenotype in a patient with spastic paraplegia 7.

artículo científico publicado en 2017

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

artículo científico publicado en 2017

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

artículo científico publicado en 2013

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

artículo científico publicado en 2017

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

artículo científico publicado en 2018

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

artículo científico publicado en 2017

Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer

artículo científico publicado en 2017

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

artículo científico publicado en 2018

Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

artículo científico publicado en 2020

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

artículo científico publicado en 2018

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype

artículo científico publicado en 2018

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

artículo científico publicado en 2018

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

scientific article published on 12 September 2020

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

artículo científico publicado en 2020

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

artículo científico publicado en 2018

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

artículo científico publicado en 2017

Lista de obras de Paldeep S Atwal

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Clinical whole-exome sequencing: are we there yet?

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

Expanded phenotype in a patient with spastic paraplegia 7.

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.