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P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13

Genetics in Medicine Open, 2024, Vol.2, p.101097, Article 101097

2024

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P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Genetics in Medicine Open, 2024, Vol.2, p.101138, Article 101138

2024

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P118: Genotype-phenotype correlations in a female with a chromosome Xp11.23 deletion including PORCN and EBP

Genetics in Medicine Open, 2023, Vol.1 (1), p.100147, Article 100147

2023

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Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172

2021

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eP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172-S172

2021

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eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa

Genetics in medicine, 2022-03, Vol.24 (3), p.S98-S99

2022

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eP223 - Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Molecular genetics and metabolism, 2021-04, Vol.132, p.S143-S143

2021

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Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Molecular genetics and metabolism, 2021-04, Vol.132, p.S143

2021

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Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Molecular genetics and metabolism, 2021-04, Vol.132, p.S129

2021

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eP198 - Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Molecular genetics and metabolism, 2021-04, Vol.132, p.S129-S129

2021

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Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

Advances in genomics and genetics, 2018-01, Vol.8, p.17-21

2018

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.1

2018

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Helping parents to face perinatal loss

Indian journal of pediatrics, 1990-09, Vol.57 (5), p.607-609

1990

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Seip-Berardinelli syndrome

Indian journal of pediatrics, 1991-07, Vol.58 (4), p.551-553

1991

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Diagnostic approach to stillbirths

Indian journal of pediatrics, 1990-09, Vol.57 (5), p.601-605

1990

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The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height: Emerging Microdeletion and Microduplication Syndromes

European journal of medical genetics, 2009, Vol.52 (2-3), p.101-107

2009

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Fetal diagnosis of the Meckel syndrome

Indian journal of pediatrics, 1991-03, Vol.58 (2), p.279-282

1991

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LATERAL NASAL PROBOSCIS: ANTENATAL DIAGNOSIS AND COUNSELING

Obstetrics and gynecology (New York. 1953), 1999-11, Vol.94 (Supplement), p.815-817

1999

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Seip-Berardinelli syndrome

Indian journal of pediatrics, 1991-09, Vol.58 (5), p.695-695

1991

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Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

American Journal of Medical Genetics Part A, 2011, Vol.155A (10), p.2508-2511

2011

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Complex autism spectrum disorder in a patient with a 17q12 microduplication

American Journal of Medical Genetics Part A, 2012, Vol.158A (5), p.1170-1177

2012

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Genetics in pediatric practice : an Indian perspective

Indian pediatrics, 1991-09, Vol.28 (9), p.975-982

1991

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Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

American journal of medical genetics, 1998-05, Vol.77 (4), p.281-284

1998

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A Comprehensive Review on the Therapeutic Potential of Curcuma longa Linn. in Relation to its Major Active Constituent Curcumin

Frontiers in pharmacology, 2022-03, Vol.13, p.820806

2022

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Fr104 ASSOCIATION OF GASTROINTESTINAL SYMPTOMS WITH OUTCOMES IN COVID-19 HOSPITALIZATIONS: A SYSTEMATIC REVIEW AND META-ANALYSIS

Gastroenterology (New York, N.Y. 1943), 2021-05, Vol.160 (6), p.S-220-S-220

2021

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P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13

P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

P118: Genotype-phenotype correlations in a female with a chromosome Xp11.23 deletion including PORCN and EBP

Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

eP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa

eP223 - Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

eP198 - Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Helping parents to face perinatal loss

Seip-Berardinelli syndrome

Diagnostic approach to stillbirths

The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height: Emerging Microdeletion and Microduplication Syndromes

Fetal diagnosis of the Meckel syndrome

LATERAL NASAL PROBOSCIS: ANTENATAL DIAGNOSIS AND COUNSELING

Seip-Berardinelli syndrome

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

Complex autism spectrum disorder in a patient with a 17q12 microduplication

Genetics in pediatric practice : an Indian perspective

Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

A Comprehensive Review on the Therapeutic Potential of Curcuma longa Linn. in Relation to its Major Active Constituent Curcumin

Fr104 ASSOCIATION OF GASTROINTESTINAL SYMPTOMS WITH OUTCOMES IN COVID-19 HOSPITALIZATIONS: A SYSTEMATIC REVIEW AND META-ANALYSIS

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