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List of works by Julie Hoover-Fong

1-23 of 23 results

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P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

scientific article published on 04 March 2013
The impact of chromosomal microarray on clinical management: a retrospective analysis

scientific article published on March 13, 2014
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

scientific article published on January 2, 2014
Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

scientific article published on October 1, 2015
Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy

scientific article published on September 23, 2015
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail‐patella syndrome: Potential association with LMX1B loss‐of‐function

scientific article published on November 2, 2010
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

scientific article
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data

scientific article published on 04 April 2017
Mosaic trisomy 13: understanding origin using SNP array

scientific article published on November 19, 2010
Otolaryngologic Manifestations of Skeletal Dysplasias in Children

scientific article published on June 1, 2012
Hearing loss in skeletal dysplasia patients

scientific article published on May 24, 2012
Best practices in peri-operative management of patients with skeletal dysplasias

scientific article published on 01 August 2017
An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias

scientific article published on October 27, 2014
Body mass index (BMI): The case for condition‐specific cut‐offs for overweight and obesity in skeletal dysplasias

scientific article published on June 24, 2013
Multicenter study of mortality in achondroplasia

scientific article published on 01 October 2018
Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

scientific article published on February 19, 2013
Simultaneous segmentation and inhomogeneity correction in magnetic resonance images

scientific article published on January 1, 2011
Hearing Screening in Children With Skeletal Dysplasia

scientific article published on December 1, 2011
Overview: referrals for genetic evaluation from child psychiatrists

scientific article published on March 28, 2016
Blood pressure in adults with short stature skeletal dysplasias

scientific article published on 15 November 2019
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

scientific article published on 23 January 2019
Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene

scientific article published on 06 October 2019
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

scientific article published on November 17, 2015

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