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Interobserver reproducibility of cervical cytologic and histologic interpretations: realistic estimates from the ASCUS-LSIL Triage Study

JAMA : the journal of the American Medical Association, 2001-03, Vol.285 (11), p.1500

2001

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Discrepancies in Clinical Laboratory Testing of Eligibility for Trastuzumab Therapy: Apparent Immunohistochemical False-Positives Do Not Get the Message

Journal of clinical oncology, 2001-05, Vol.19 (10), p.2714-2721

2001

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Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American journal of human genetics, 2015-05, Vol.96 (5), p.709-719

2015

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Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

The Journal of pediatrics, 2017-02, Vol.181, p.261-266

2017

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Quadrivalent Vaccine against Human Papillomavirus to Prevent High-Grade Cervical Lesions

The New England journal of medicine, 2007-05, Vol.356 (19), p.1915-1927

Koutsky, LA

2007

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Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Journal of allergy and clinical immunology, 2012-01, Vol.129 (1), p.251-254.e6

2012

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Human Papillomaviruses and Cervical Neoplasia: A Model for Carcinogenesis

International journal of gynecological pathology, 2000-01, Vol.19 (1), p.16-28

Stoler, Mark H

2000

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Detection of Multiple Human Papillomavirus Types in Condylomata Acuminata Lesions from Otherwise Healthy and Immunosuppressed Patients

Journal of Clinical Microbiology, 1999-10, Vol.37 (10), p.3316-3322

1999

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

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Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

Case reports in pediatrics, 2013-01, Vol.2013, p.764659-5

2013

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FOXE3 plays a significant role in autosomal recessive microphthalmia

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.582-590

2010

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Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1565-1569

2019

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

The Journal of pediatrics, 2018-05, Vol.196, p.270-274.e1

2018

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Prenatal and Postnatal Genetic Testing: Why, How, and When?

Pediatric annals, 2017-11, Vol.46 (11), p.e423

Stoler, Joan M

2017

Volltextzugriff (PDF)

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

American journal of human genetics, 2024-04, Vol.111 (4), p.761-777

2024

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Recent developments in fetal alcohol spectrum disorder

Current opinion in endocrinology, diabetes, and obesity, 2020-02, Vol.27 (1), p.77

2020

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Patients with Ehlers Danlos syndrome and CRPS: A possible association?

Pain (Amsterdam), 2006-07, Vol.123 (1), p.204-209

2006

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The Frequency of Palatal Anomalies in Saethre-Chotzen Syndrome

The Cleft palate-craniofacial journal, 2009-05, Vol.46 (3), p.280-284

2009

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Neurology, 2013-10, Vol.81 (16), p.1378

2013

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Leukodystrophies in Children: Diagnosis, Care, and Treatment

Pediatrics (Evanston), 2021-09, Vol.148 (3), p.1

2021

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Astrocyte expression of mRNA encoding cytokines IP‐10 and JE/MCP‐1 in experimental autoimmune encephalomyelitis

The FASEB journal, 1993-04, Vol.7 (6), p.592-600

1993

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

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Hypoxia induces type II NOS gene expression in pulmonary artery endothelial cells via HIF-1

American journal of physiology. Lung cellular and molecular physiology, 1998-02, Vol.274 (2), p.212-L219

1998

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Bronchoalveolar neutrophils, interferon gamma-inducible protein 10 and interleukin-7 in AIDS-associated tuberculosis

Clinical and experimental immunology, 2007-05, Vol.148 (2), p.254-259

2007

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Interobserver reproducibility of cervical cytologic and histologic interpretations: realistic estimates from the ASCUS-LSIL Triage Study

Discrepancies in Clinical Laboratory Testing of Eligibility for Trastuzumab Therapy: Apparent Immunohistochemical False-Positives Do Not Get the Message

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

Quadrivalent Vaccine against Human Papillomavirus to Prevent High-Grade Cervical Lesions

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Human Papillomaviruses and Cervical Neoplasia: A Model for Carcinogenesis

Detection of Multiple Human Papillomavirus Types in Condylomata Acuminata Lesions from Otherwise Healthy and Immunosuppressed Patients

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

FOXE3 plays a significant role in autosomal recessive microphthalmia

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

Prenatal and Postnatal Genetic Testing: Why, How, and When?

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Recent developments in fetal alcohol spectrum disorder

Patients with Ehlers Danlos syndrome and CRPS: A possible association?

The Frequency of Palatal Anomalies in Saethre-Chotzen Syndrome

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Astrocyte expression of mRNA encoding cytokines IP‐10 and JE/MCP‐1 in experimental autoimmune encephalomyelitis

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Hypoxia induces type II NOS gene expression in pulmonary artery endothelial cells via HIF-1

Bronchoalveolar neutrophils, interferon gamma-inducible protein 10 and interleukin-7 in AIDS-associated tuberculosis

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