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Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate

Human genetics, 2020-10, Vol.139 (10), p.1261-1272

2020

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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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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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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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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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Obesity and Severe Obesity in Children with Autism Spectrum Disorder: Prevalence and Risk Factors

Southern medical journal (Birmingham, Ala.), 2020-04, Vol.113 (4), p.168-175

2020

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Once-daily Compared With Twice-daily Enoxaparin Maintenance Therapy Appears Safe and Efficacious in Pediatric Venous Thromboembolism

Journal of pediatric hematology/oncology, 2023-07, Vol.45 (5), p.e655-e659

2023

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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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Patient Perception of Negative Noninvasive Prenatal Testing Results

American journal of perinatology reports, 2016-10, Vol.6 (4), p.e391-e406

2016

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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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Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States

Journal of genetic counseling, 2024-02

2024

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Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants

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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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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Undergraduate Student Perceptions and Awareness of Genetic Counseling

Journal of genetic counseling, 2019-02, Vol.28 (1), p.27-39

2019

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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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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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Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers

Journal of neurosurgery. Pediatrics, 2021-08, Vol.28 (2), p.229-235

2021

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Attitudes of clinicians toward cardiac surgery and trisomy 18

Journal of genetic counseling, 2019-06, Vol.28 (3), p.654-663

2019

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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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Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate

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

Disruption of fos causes craniofacial anomalies in developing zebrafish

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

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

Obesity and Severe Obesity in Children with Autism Spectrum Disorder: Prevalence and Risk Factors

Once-daily Compared With Twice-daily Enoxaparin Maintenance Therapy Appears Safe and Efficacious in Pediatric Venous Thromboembolism

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

Patient Perception of Negative Noninvasive Prenatal Testing Results

Carbon Dioxide Insufflation: One Size May Not Fit Both Ends

Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States

Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants

Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy

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

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

Undergraduate Student Perceptions and Awareness of Genetic Counseling

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

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

Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers

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

Attitudes of clinicians toward cardiac surgery and trisomy 18

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

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