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P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel

Genetics in Medicine Open, 2024, Vol.2, p.101459, Article 101459

2024

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Salivary C-reactive protein—a possible predictor of serum levels in pediatric acute respiratory illness

European journal of pediatrics, 2021-08, Vol.180 (8), p.2465-2472

2021

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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

BMC neurology, 2024-03, Vol.24 (1), p.87-87, Article 87

2024

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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2718-2723

2022

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P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age

Genetics in Medicine Open, 2024, Vol.2, p.101700, Article 101700

2024

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Evidence-based genetic testing for individuals with congenital diaphragmatic hernia (CDH)

The Journal of pediatrics, 2022-09, Vol.248, p.13-14

2022

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eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2

Genetics in medicine, 2022-03, Vol.24 (3), p.S82-S82

2022

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Therapeutic Drug Monitoring Increases Drug Retention of Anti-Tumor Necrosis Factor Alpha Agents in Pediatric Patients With Crohn's Disease

Inflammatory bowel diseases, 2020-08, Vol.26 (8), p.1276-1282

2020

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Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Underlying genetic etiologies of congenital diaphragmatic hernia

Prenatal diagnosis, 2022-03, Vol.42 (3), p.373-386

2022

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A familial deletion of 10p12.1 associated with thrombocytopenia

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.77-81

2024

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Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108335, Article 108335

2024

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DNA concentrations in amniotic fluid according to gestational age and fetal sex: data from 2573 samples

Archives of gynecology and obstetrics, 2024-10, Vol.310 (4), p.1981-1987

2024

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eP127 - Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Molecular genetics and metabolism, 2021-04, Vol.132, p.S84-S84

2021

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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Molecular genetics and metabolism, 2021-04, Vol.132, p.S84

2021

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The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

Cell, 2023-03, Vol.186 (7), p.1493-1511.e40

2023

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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition

Clinical genetics, 2022-02, Vol.101 (2), p.265-266

2022

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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.836-840

2021

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human mutation, 2022-04, Vol.43 (4), p.461-470

2022

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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

EBioMedicine, 2024-01, Vol.99, p.104940-104940, Article 104940

2024

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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3516-3524

2022

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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesResearch in context

EBioMedicine, 2024-01, Vol.99, p.104940

2024

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A model for assessing the gap between physician residency demand and present status

The Israel Medical Association journal, 2012-05, Vol.14 (5), p.275-280

2012

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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

American journal of medical genetics. Part A, 2021, Vol.185 (3), p.836-840

2021

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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American journal of medical genetics. Part A, 2022, Vol.188 (12), p.3516-3524

2022

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P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel

Salivary C-reactive protein—a possible predictor of serum levels in pediatric acute respiratory illness

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age

Evidence-based genetic testing for individuals with congenital diaphragmatic hernia (CDH)

eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2

Therapeutic Drug Monitoring Increases Drug Retention of Anti-Tumor Necrosis Factor Alpha Agents in Pediatric Patients With Crohn's Disease

Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003)

Underlying genetic etiologies of congenital diaphragmatic hernia

A familial deletion of 10p12.1 associated with thrombocytopenia

Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience

DNA concentrations in amniotic fluid according to gestational age and fetal sex: data from 2573 samples

eP127 - Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesResearch in context

A model for assessing the gap between physician residency demand and present status

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

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