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Zornitza Stark

Showing results (51-60 of 270) with videos related to

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European Journal of Human Genetics : EJHG|February 12, 2025
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementationLin Cheng, Nathasha Kugenthiran, Catherine Quinlan, et al.
Pediatric Pulmonology|February 15, 2020
Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndromeShivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, et al.
Kidney International Reports|June 14, 2019
Outcomes Following Treatment of Maternal Hypercalcemia Due to <i>CYP24A1</i> Pathogenic VariantsLucy McBride, Christine Houlihan, Catherine Quinlan, et al.
European Journal of Human Genetics : EJHG|February 2, 2023
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?Ari E Horton, Sebastian Lunke, Simon Sadedin, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7Zornitza Stark, Monique M Ryan, Damien L Bruno, et al.
Journal of Paediatrics and Child Health|March 29, 2022
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screeningThomas A Forbes, Jane Wallace, Smitha Kumble, et al.
BMJ Open|November 29, 2023
Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in AustraliaDylan A Mordaunt, Zornitza Stark, Francisco Santos Gonzalez, et al.
Genetics in Medicine Open|December 13, 2024
Evolution of virtual gene panels over time and implications for genomic data re-analysisAlan J Robertson, Khoa Tran, Chirag Patel, et al.
European Journal of Medical Genetics|July 31, 2010
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic featuresZornitza Stark, Damien L Bruno, Hayley Mountford, et al.
Prenatal Diagnosis|September 9, 2015
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 casesPatrick Yap, George McGillivray, Fiona Norris, et al.
Pageof 27

Showing results (51-60 of 270) with videos related to

Sort By:
Pageof 27
European Journal of Human Genetics : EJHG|February 12, 2025
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementationLin Cheng, Nathasha Kugenthiran, Catherine Quinlan, et al.
Pediatric Pulmonology|February 15, 2020
Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndromeShivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, et al.
Kidney International Reports|June 14, 2019
Outcomes Following Treatment of Maternal Hypercalcemia Due to <i>CYP24A1</i> Pathogenic VariantsLucy McBride, Christine Houlihan, Catherine Quinlan, et al.
European Journal of Human Genetics : EJHG|February 2, 2023
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?Ari E Horton, Sebastian Lunke, Simon Sadedin, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7Zornitza Stark, Monique M Ryan, Damien L Bruno, et al.
Journal of Paediatrics and Child Health|March 29, 2022
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screeningThomas A Forbes, Jane Wallace, Smitha Kumble, et al.
BMJ Open|November 29, 2023
Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in AustraliaDylan A Mordaunt, Zornitza Stark, Francisco Santos Gonzalez, et al.
Genetics in Medicine Open|December 13, 2024
Evolution of virtual gene panels over time and implications for genomic data re-analysisAlan J Robertson, Khoa Tran, Chirag Patel, et al.
European Journal of Medical Genetics|July 31, 2010
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic featuresZornitza Stark, Damien L Bruno, Hayley Mountford, et al.
Prenatal Diagnosis|September 9, 2015
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 casesPatrick Yap, George McGillivray, Fiona Norris, et al.
Pageof 27