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

Journal of genetic counseling, 2023-11

2023

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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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Infant Colic Represents Gut Inflammation and Dysbiosis

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

2018

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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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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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Studying the effects of maternal febrile exposures on neurological outcomes in offspring: conceptual and methodological issues

Developmental medicine and child neurology, 2015-08, Vol.57 (8), p.698-699

Hashmi, S Shahrukh

2015

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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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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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The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers

Prenatal diagnosis, 2019-04, Vol.39 (5), p.351-360

2019

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

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

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

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

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

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

Infant Colic Represents Gut Inflammation and Dysbiosis

Patient Perception of Negative Noninvasive Prenatal Testing Results

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

Studying the effects of maternal febrile exposures on neurological outcomes in offspring: conceptual and methodological issues

Carbon Dioxide Insufflation: One Size May Not Fit Both Ends

Natural history study of Pseudoachondroplasia: A focus on oral health

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

The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers

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