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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Vascular medicine (London, England), 2022-06, Vol.27 (3), p.283-289

2022

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

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2508-2511

2011

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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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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3754-3761

2021

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

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.389-393

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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Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

The Journal of craniofacial surgery, 2014-09, Vol.25 (5), p.1601-1609

2014

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

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1170-1177

2012

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The Mount Sinai clinical pathway for the management of pheochromocytoma

Endocrine practice, 2015-04, Vol.21 (4), p.368-382

2015

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Prenatal diagnosis, 2012-01, Vol.32 (1), p.70-74

2012

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Lateral nasal proboscis: antenatal diagnosis and counseling

Obstetrics and gynecology (New York. 1953), 1999-11, Vol.94 (5), p.815-817

1999

Volltextzugriff (PDF)

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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Initial ELSO Guidance Document: ECMO for COVID-19 Patients with Severe Cardiopulmonary Failure

ASAIO journal (1992), 2020-05, Vol.66 (5), p.472-474

2020

Volltextzugriff (PDF)

The potential of siRNA based drug delivery in respiratory disorders: Recent advances and progress

Drug development research, 2019-09, Vol.80 (6), p.714-730

2019

Volltextzugriff (PDF)

Immunotherapy and Targeted Therapy for Advanced Gastroesophageal Cancer: ASCO Guideline

Journal of clinical oncology, 2023-03, Vol.41 (7), p.1470-1491

2023

Volltextzugriff (PDF)

Noncompaction cardiomyopathy: The role of advanced multimodality imaging techniques in diagnosis and assessment

Echocardiography (Mount Kisco, N.Y.), 2017-02, Vol.34 (2), p.279-289

2017

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Targeting eosinophils in respiratory diseases: Biological axis, emerging therapeutics and treatment modalities

Life sciences (1973), 2021-02, Vol.267, p.118973, Article 118973

2021

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Induction and Maintenance Therapy With Infliximab for Children With Moderate to Severe Ulcerative Colitis

Clinical gastroenterology and hepatology, 2012-04, Vol.10 (4), p.391-399.e1

2012

Volltextzugriff (PDF)

The Neurologic Assessment in Neuro-Oncology (NANO) scale: a tool to assess neurologic function for integration into the Response Assessment in Neuro-Oncology (RANO) criteria

Neuro-oncology (Charlottesville, Va.), 2017-05, Vol.19 (5), p.625-635

2017

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Early imaging marker of progressing glioblastoma: a window of opportunity

Journal of neuro-oncology, 2020-07, Vol.148 (3), p.629-640

2020

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Cellular signalling pathways mediating the pathogenesis of chronic inflammatory respiratory diseases: an update

Inflammopharmacology, 2020-08, Vol.28 (4), p.795-817

2020

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Extracorporeal Life Support Organization Guidelines for the Provision and Assessment of Nutritional Support in the Neonatal and Pediatric ECMO Patient

ASAIO journal (1992), 2022-07, Vol.68 (7), p.875-880

2022

Volltextzugriff (PDF)

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Genetics in medicine, 2009-03, Vol.11 (3), p.210-219

2009

Volltextzugriff (PDF)

Endoscopy Is Relatively Safe in Patients with Acute Ischemic Stroke and Gastrointestinal Hemorrhage

Digestive diseases and sciences, 2019-06, Vol.64 (6), p.1588-1598

2019

Volltextzugriff (PDF)

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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

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

Headaches in hypermobility syndromes: A pain in the neck?

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

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

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

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

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

The Mount Sinai clinical pathway for the management of pheochromocytoma

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Lateral nasal proboscis: antenatal diagnosis and counseling

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

Initial ELSO Guidance Document: ECMO for COVID-19 Patients with Severe Cardiopulmonary Failure

The potential of siRNA based drug delivery in respiratory disorders: Recent advances and progress

Immunotherapy and Targeted Therapy for Advanced Gastroesophageal Cancer: ASCO Guideline

Noncompaction cardiomyopathy: The role of advanced multimodality imaging techniques in diagnosis and assessment

Targeting eosinophils in respiratory diseases: Biological axis, emerging therapeutics and treatment modalities

Induction and Maintenance Therapy With Infliximab for Children With Moderate to Severe Ulcerative Colitis

The Neurologic Assessment in Neuro-Oncology (NANO) scale: a tool to assess neurologic function for integration into the Response Assessment in Neuro-Oncology (RANO) criteria

Early imaging marker of progressing glioblastoma: a window of opportunity

Cellular signalling pathways mediating the pathogenesis of chronic inflammatory respiratory diseases: an update

Extracorporeal Life Support Organization Guidelines for the Provision and Assessment of Nutritional Support in the Neonatal and Pediatric ECMO Patient

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Endoscopy Is Relatively Safe in Patients with Acute Ischemic Stroke and Gastrointestinal Hemorrhage

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