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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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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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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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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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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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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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Headaches in hypermobility syndromes: A pain in the neck?

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2902-2908

2020

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240

2024

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1956-1963

2018

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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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17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

Journal of pediatric genetics (Birmingham, Ala.), 2012-06, Vol.1 (2), p.135-141

2012

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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

Volltextzugriff (PDF)

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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Study of bacterial population dynamics in seed culture developed for ammonia reduction from synthetic wastewater

World journal of microbiology & biotechnology, 2024-02, Vol.40 (2), p.75-75, Article 75

2024

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Antibacterial and antioxidant potential of biosynthesized copper nanoparticles mediated through Cissus arnotiana plant extract

Journal of photochemistry and photobiology. B, Biology, 2019-08, Vol.197, p.111531-111531, Article 111531

2019

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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.820806-820806

2022

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Emerging trends in the novel drug delivery approaches for the treatment of lung cancer

Chemico-biological interactions, 2019-08, Vol.309, p.108720-108720, Article 108720

2019

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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

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

Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

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

eP223 - 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

Headaches in hypermobility syndromes: A pain in the neck?

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

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

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

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

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

Study of bacterial population dynamics in seed culture developed for ammonia reduction from synthetic wastewater

Antibacterial and antioxidant potential of biosynthesized copper nanoparticles mediated through Cissus arnotiana plant extract

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

Emerging trends in the novel drug delivery approaches for the treatment of lung cancer

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

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