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The trisomy 18 syndrome

Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.81-81

2012

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Cassidy and Allanson's Management of Genetic Syndromes

Fourth edition, 2020

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Etiology and clinical presentation of birth defects: population based study

BMJ (Online), 2017-05, Vol.357, p.j2249

2017

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Wolf-Hirschhorn syndrome: A review and update

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-09, Vol.169C (3), p.216-223

2015

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Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.241-251

2014

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The importance of case reports in advancing scientific knowledge of rare diseases

Advances in experimental medicine and biology, 2010, Vol.686, p.77

Carey, John C

2010

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Elements of morphology: General terms for congenital anomalies

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2726-2733

2013

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Program Evaluation in School Counseling: Improving Comprehensive and Developmental Programs

1st edition., 2020

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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

American journal of human genetics, 2011-07, Vol.89 (1), p.28-43

2011

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Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes

The Journal of pediatrics, 2022-08, Vol.247, p.11-13

Carey, John C.

2022

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The pathogenesis of gastroschisis

Birth defects research, 2023-03, Vol.115 (5), p.515-516

2023

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Journal of allergy and clinical immunology, 2008-07, Vol.122 (1), p.181-187

2008

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Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research

American journal of medical genetics. Part A, 2007-04, Vol.143A (7), p.639-652

2007

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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Scientific reports, 2021-10, Vol.11 (1), p.20307-11, Article 20307

2021

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Pediatrics (Evanston), 2008-02, Vol.121 (2), p.404-410

2008

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Mutations in embryonic myosin heavy chain ( MYH3 ) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Nature genetics, 2006-05, Vol.38 (5), p.561-565

2006

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Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.13-14

Carey, John C.

2020

Volltextzugriff (PDF)

Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Scientific reports, 2022-04, Vol.12 (1), p.5800-5800, Article 5800

2022

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Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

American journal of perinatology, 2021-09, Vol.38 (11), p.1122-1125

Carey, John C

2021

Volltextzugriff (PDF)

Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-09, Vol.172C (3), p.257-263

2016

Volltextzugriff (PDF)

Parent‐authored memoirs: Lessons in the practice of narrative medicine

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2846-2848

Carey, John C.

2021

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.33-40

2012

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Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance

Current opinion in pediatrics, 2012-12, Vol.24 (6), p.672-678

Carey, John C

2012

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Double Inactivation of NF1 in Tibial Pseudarthrosis

American journal of human genetics, 2006-07, Vol.79 (1), p.143-148

2006

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The trisomy 18 syndrome

Cassidy and Allanson's Management of Genetic Syndromes

Etiology and clinical presentation of birth defects: population based study

Wolf-Hirschhorn syndrome: A review and update

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

The importance of case reports in advancing scientific knowledge of rare diseases

Elements of morphology: General terms for congenital anomalies

Program Evaluation in School Counseling: Improving Comprehensive and Developmental Programs

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes

The pathogenesis of gastroschisis

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research

Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Mutations in embryonic myosin heavy chain ( MYH3 ) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes

Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes

Parent‐authored memoirs: Lessons in the practice of narrative medicine

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance

Double Inactivation of NF1 in Tibial Pseudarthrosis

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

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