Search research articles
Contact Us
Filters
Showing results (71-80 of 158) with videos related to
Page
of 16
Sort By:
Clinical Dysmorphology
|
March 2, 2013
Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication
Gillian Rea, Ray L Stallings, Marice Mullarkey, et al.
Psycho-Oncology
|
January 30, 2009
Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study
Siobhan McCann, Domhnall MacAuley, Yvonne Barnett, et al.
Fetal and Pediatric Pathology
|
October 2, 2018
Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin
Laura A Skillen, Damien Gates, Julie-Ann Collins, et al.
Molecular Genetics and Metabolism
|
October 9, 2013
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
Lisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, et al.
The Oncologist
|
June 19, 2012
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events
Izabela A Malinowska, Charles W Shepherd, Deirdre E Donnelly, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 6, 2010
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3
M Andrew Nesbit, Fadil M Hannan, Una Graham, et al.
Developmental Medicine and Child Neurology
|
February 28, 2012
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
Victoria Nesbitt, Patrick J Morrison, Ellen Crushell, et al.
Journal of Genetic Counseling
|
April 21, 2015
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults
Hilda A Crawford, Belinda Barton, Meredith J Wilson, et al.
Endocrine
|
January 13, 2018
Cantú syndrome with coexisting familial pituitary adenoma
Pedro Marques, Rupert Spencer, Patrick J Morrison, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 27, 2004
Familial spontaneous pneumothorax and FBN1 mutations
Caroline M Cardy, Nick A Maskell, Penny A Handford, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 158) with videos related to
Sort By:
Page
of 16
Clinical Dysmorphology
|
March 2, 2013
Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication
Gillian Rea, Ray L Stallings, Marice Mullarkey, et al.
Psycho-Oncology
|
January 30, 2009
Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study
Siobhan McCann, Domhnall MacAuley, Yvonne Barnett, et al.
Fetal and Pediatric Pathology
|
October 2, 2018
Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin
Laura A Skillen, Damien Gates, Julie-Ann Collins, et al.
Molecular Genetics and Metabolism
|
October 9, 2013
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
Lisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, et al.
The Oncologist
|
June 19, 2012
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events
Izabela A Malinowska, Charles W Shepherd, Deirdre E Donnelly, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 6, 2010
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3
M Andrew Nesbit, Fadil M Hannan, Una Graham, et al.
Developmental Medicine and Child Neurology
|
February 28, 2012
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
Victoria Nesbitt, Patrick J Morrison, Ellen Crushell, et al.
Journal of Genetic Counseling
|
April 21, 2015
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults
Hilda A Crawford, Belinda Barton, Meredith J Wilson, et al.
Endocrine
|
January 13, 2018
Cantú syndrome with coexisting familial pituitary adenoma
Pedro Marques, Rupert Spencer, Patrick J Morrison, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 27, 2004
Familial spontaneous pneumothorax and FBN1 mutations
Caroline M Cardy, Nick A Maskell, Penny A Handford, et al.
Page
of 16