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Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

Disease models & mechanisms, 2023-06, Vol.16 (6)

2023

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Multicenter study of mortality in achondroplasia

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2359-2364

2018

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Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies

Leukemia & lymphoma, 2019-10, Vol.60 (12), p.3020-3027

2019

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Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports

Frontiers in neurology, 2021-04, Vol.12, p.627672-627672

2021

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A Student-Designed Multimodal Sex- and Gender-Based Women's Health Elective Program: Advocacy Curriculum for Medical Students

Journal of medical education and curricular development, 2023-01, Vol.10, p.23821205231221370-23821205231221370

2023

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Disruption of fos causes craniofacial anomalies in developing zebrafish

Frontiers in cell and developmental biology, 2023-08, Vol.11, p.1141893-1141893

2023

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Demographic and clinical features of pediatric patients with orthostatic intolerance and an abnormal head-up tilt table test; A retrospective descriptive study

Pediatrics and neonatology, 2020-02, Vol.61 (1), p.68-74

2020

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Evaluation of the Period of PURPLE Crying: An Abusive Head Trauma Prevention Programme

Child abuse review (Chichester, England : 1992), 2020-05, Vol.29 (3), p.291-300

2020

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Carbon Dioxide Insufflation: One Size May Not Fit Both Ends

Journal of pediatric gastroenterology and nutrition, 2021-04, Vol.72 (4), p.e103-e103

2021

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Natural history study of Pseudoachondroplasia: A focus on oral health

Birth defects research, 2024-07, Vol.116 (7), p.e2378-n/a

2024

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Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)

Cytogenetic and genome research, 2023-05, Vol.162 (11-12), p.599-608

2023

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Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy

European journal of haematology, 2023-01, Vol.110 (1), p.109-116

2023

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Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

The Laryngoscope, 2022-08, Vol.132 (8), p.1548-1554

2022

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Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Genetics in medicine, 2023-07, Vol.25 (7), p.100845, Article 100845

2023

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Insufflation With Carbon Dioxide During Pediatric Colonoscopy for Control of Postprocedure Pain

Journal of clinical gastroenterology, 2018-09, Vol.52 (8), p.715-720

2018

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Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

Journal of child neurology, 2019-03, Vol.34 (4), p.177-183

2019

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CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1168-1174

2021

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Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

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P486: Establishing normative collagen X levels in blood in individuals with achondroplasia: Application to understand growth

Genetics in Medicine Open, 2023, Vol.1 (1), p.100533, Article 100533

2023

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Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African‐American family

Molecular genetics & genomic medicine, 2015-09, Vol.3 (5), p.440-451

2015

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Regulatory variant in FZD 6 gene contributes to nonsyndromic cleft lip and palate in an African‐American family

Molecular genetics & genomic medicine, 2015-09, Vol.3 (5), p.440-451

2015

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Carbon Dioxide Insufflation

Journal of pediatric gastroenterology and nutrition, 2021-04, Vol.72 (4), p.e103-e103

2021

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Decreased exhaled nitric oxide levels in patients with mitochondrial disorders

The open respiratory medicine journal, 2013, Vol.7 (1), p.67-70

2013

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1160 Newborn visits an opportunity for detection of postpartum hypertensive disorders; a before and after study

American journal of obstetrics and gynecology, 2021-02, Vol.224 (2), p.S714-S715

2021

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Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

Multicenter study of mortality in achondroplasia

Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies

Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports

A Student-Designed Multimodal Sex- and Gender-Based Women's Health Elective Program: Advocacy Curriculum for Medical Students

Disruption of fos causes craniofacial anomalies in developing zebrafish

Demographic and clinical features of pediatric patients with orthostatic intolerance and an abnormal head-up tilt table test; A retrospective descriptive study

Evaluation of the Period of PURPLE Crying: An Abusive Head Trauma Prevention Programme

Carbon Dioxide Insufflation: One Size May Not Fit Both Ends

Natural history study of Pseudoachondroplasia: A focus on oral health

Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)

Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Insufflation With Carbon Dioxide During Pediatric Colonoscopy for Control of Postprocedure Pain

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Geographical Differences in Cardiovascular Comorbidities and Outcomes of COVID-19 Hospitalized Patients in the USA

Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

P486: Establishing normative collagen X levels in blood in individuals with achondroplasia: Application to understand growth

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African‐American family

Regulatory variant in FZD 6 gene contributes to nonsyndromic cleft lip and palate in an African‐American family

Carbon Dioxide Insufflation

Decreased exhaled nitric oxide levels in patients with mitochondrial disorders

1160 Newborn visits an opportunity for detection of postpartum hypertensive disorders; a before and after study

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