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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Genetics in medicine, 2021-08, Vol.23 (8), p.1498-1505

2021

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Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Neurobiology of disease, 2013-03, Vol.51, p.93-103

2013

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Physicians’ Awareness and Utilization of Genetic Services in Texas

Journal of genetic counseling, 2018-08, Vol.27 (4), p.968-977

2018

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Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: Highlighting orofacial clefts

Birth defects research. A Clinical and molecular teratology, 2014-11, Vol.100 (11), p.895-904

2014

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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.522-522, Article 522

2021

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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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The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

Human molecular genetics, 2012-07, Vol.21 (14), p.3226-3236

2012

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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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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.139-139, Article 139

2023

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Glucose Regulation of Load‐Induced mTOR Signaling and ER Stress in Mammalian Heart

Journal of the American Heart Association, 2013-06, Vol.2 (3), p.e004796-n/a

2013

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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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Survival of Texas infants born with trisomies 21, 18, and 13

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.360-366

2010

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Multistate study of the epidemiology of clubfoot

Birth defects research. A Clinical and molecular teratology, 2009-11, Vol.85 (11), p.897-904

2009

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Spiritual Exploration in the Prenatal Genetic Counseling Session

Journal of genetic counseling, 2016-10, Vol.25 (5), p.923-935

2016

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Comparison of pneumococcal vaccination response in children with sickle cell disease: HbSS and HbSC

Allergologia et immunopathologia, 2019-11, Vol.47 (6), p.564-569

2019

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Maternal fever during early pregnancy and the risk of oral clefts

Birth defects research. A Clinical and molecular teratology, 2010-03, Vol.88 (3), p.186-194

2010

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Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan

Journal of genetic counseling, 2023-11

2023

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Infant Colic Represents Gut Inflammation and Dysbiosis

The Journal of pediatrics, 2018-12, Vol.203, p.55-61.e3

2018

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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

2023

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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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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Physicians’ Awareness and Utilization of Genetic Services in Texas

Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: Highlighting orofacial clefts

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

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

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

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

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Glucose Regulation of Load‐Induced mTOR Signaling and ER Stress in Mammalian Heart

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

Survival of Texas infants born with trisomies 21, 18, and 13

Multistate study of the epidemiology of clubfoot

Spiritual Exploration in the Prenatal Genetic Counseling Session

Comparison of pneumococcal vaccination response in children with sickle cell disease: HbSS and HbSC

Maternal fever during early pregnancy and the risk of oral clefts

Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan

Infant Colic Represents Gut Inflammation and Dysbiosis

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

Patient Perception of Negative Noninvasive Prenatal Testing Results

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