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Haematologica
|
August 28, 2025
Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to <i>SLC29A3</i> mutations
Troy C Quigg, Beth A Kurt, Laurie H Seaver, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descent
Shauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2014
The perinatal presentation of cardiofaciocutaneous syndrome
Kara N Wong Ramsey, Matthew H Loichinger, Thomas P Slavin, et al.
Pediatric Neurology
|
October 18, 2018
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy
Laurie H Seaver, Steven DeRoos, Nicholas J Andersen, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2014
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects
Marie-Luise Brennan, Margaret P Adam, Laurie H Seaver, et al.
Journal of Child Neurology
|
May 19, 2026
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous <i>MDH2</i> Variant
Kornkanok Saringkarisate, Joshua I Umland, Rodolfo E Bégué, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2025
C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female
Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, et al.
Ophthalmic Genetics
|
November 28, 2009
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4
Ajaz M Siddiqui, David B Everman, R Curtis Rogers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2012
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
Kimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 38) with videos related to
Sort By:
Page
of 4
Haematologica
|
August 28, 2025
Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to <i>SLC29A3</i> mutations
Troy C Quigg, Beth A Kurt, Laurie H Seaver, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descent
Shauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2014
The perinatal presentation of cardiofaciocutaneous syndrome
Kara N Wong Ramsey, Matthew H Loichinger, Thomas P Slavin, et al.
Pediatric Neurology
|
October 18, 2018
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy
Laurie H Seaver, Steven DeRoos, Nicholas J Andersen, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2014
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects
Marie-Luise Brennan, Margaret P Adam, Laurie H Seaver, et al.
Journal of Child Neurology
|
May 19, 2026
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous <i>MDH2</i> Variant
Kornkanok Saringkarisate, Joshua I Umland, Rodolfo E Bégué, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2025
C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female
Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, et al.
Ophthalmic Genetics
|
November 28, 2009
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4
Ajaz M Siddiqui, David B Everman, R Curtis Rogers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2012
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
Kimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, et al.
Page
of 4