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BMC Medical Genetics
|
October 29, 2014
Fragile X protein in newborn dried blood spots
Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, et al.
The American Journal of Surgical Pathology
|
January 5, 2022
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy
Katelyn Dannheim, Jodie Ouahed, Michael Field, et al.
Frontiers in Genetics
|
July 19, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, et al.
Breast Cancer Research : BCR
|
June 26, 2004
Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families
Geoffrey J Lindeman, Melody Hiew, Jane E Visvader, et al.
BMC Health Services Research
|
August 1, 2025
Embedding research into the organisational structure of smaller rural hospitals: building research culture and capacity and understanding perceived rural health workforce benefit
Laura Alston, Dai Pu, Sarah Wood, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 24, 2022
MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations
Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Raman Kumar, Thuong Ha, Duyen Pham, et al.
The Australian Journal of Rural Health
|
February 7, 2025
Establishment of a Research Unit in Colac, a Medium Rural Town: An Update on Progress and Guidance for Rural Health Service Research Strategy Development
Laura Alston, Michael Field, Alison Buccheri, et al.
Nutrients
|
January 11, 2022
Testing the Accuracy of a Bedside Screening Tool Framework to Clinical Records for Identification of Patients at Risk of Malnutrition in a Rural Setting: An Exploratory Study
Laura Alston, Megan Green, Melanie Nichols, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field, Ingrid E Scheffer, Deepak Gill, et al.
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Search research articles
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Showing results (41-50 of 136) with videos related to
Sort By:
Page
of 14
BMC Medical Genetics
|
October 29, 2014
Fragile X protein in newborn dried blood spots
Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, et al.
The American Journal of Surgical Pathology
|
January 5, 2022
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy
Katelyn Dannheim, Jodie Ouahed, Michael Field, et al.
Frontiers in Genetics
|
July 19, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, et al.
Breast Cancer Research : BCR
|
June 26, 2004
Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families
Geoffrey J Lindeman, Melody Hiew, Jane E Visvader, et al.
BMC Health Services Research
|
August 1, 2025
Embedding research into the organisational structure of smaller rural hospitals: building research culture and capacity and understanding perceived rural health workforce benefit
Laura Alston, Dai Pu, Sarah Wood, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 24, 2022
MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations
Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Raman Kumar, Thuong Ha, Duyen Pham, et al.
The Australian Journal of Rural Health
|
February 7, 2025
Establishment of a Research Unit in Colac, a Medium Rural Town: An Update on Progress and Guidance for Rural Health Service Research Strategy Development
Laura Alston, Michael Field, Alison Buccheri, et al.
Nutrients
|
January 11, 2022
Testing the Accuracy of a Bedside Screening Tool Framework to Clinical Records for Identification of Patients at Risk of Malnutrition in a Rural Setting: An Exploratory Study
Laura Alston, Megan Green, Melanie Nichols, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field, Ingrid E Scheffer, Deepak Gill, et al.
Page
of 14