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Nicole Martin

Showing results (91-100 of 103) with videos related to

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Human Reproduction (Oxford, England)|March 25, 2020
A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohortLisa Hui, Alice Poulton, Eliza Kluckow, et al.
Prenatal Diagnosis|November 7, 2019
Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016Eliza Kluckow, Jane Halliday, Alice Poulton, et al.
American Journal of Obstetrics and Gynecology|May 6, 2021
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage studyLisa Hui, Cecilia Pynaker, Leonard Bonacquisto, et al.
Cancer Research Communications|February 3, 2025
Phase Ib Study of Immunocytokine Simlukafusp Alfa (FAP-IL2v) Combined with Pembrolizumab for Treatment of Advanced and/or Metastatic MelanomaEva Munoz-Couselo, Ainara Soria Rivas, Shahneen Sandhu, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Human Reproduction (Oxford, England)|March 25, 2020
A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohortLisa Hui, Alice Poulton, Eliza Kluckow, et al.
Prenatal Diagnosis|November 7, 2019
Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016Eliza Kluckow, Jane Halliday, Alice Poulton, et al.
American Journal of Obstetrics and Gynecology|May 6, 2021
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage studyLisa Hui, Cecilia Pynaker, Leonard Bonacquisto, et al.
Cancer Research Communications|February 3, 2025
Phase Ib Study of Immunocytokine Simlukafusp Alfa (FAP-IL2v) Combined with Pembrolizumab for Treatment of Advanced and/or Metastatic MelanomaEva Munoz-Couselo, Ainara Soria Rivas, Shahneen Sandhu, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 11