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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients
Philip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Clinical Genetics
|
January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
Jessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases
Sahar Mansour, Fiona Connell, Colin Steward, et al.
JCI Insight
|
February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
Vladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Brain : a Journal of Neurology
|
August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
Emanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
Nature Genetics
|
May 30, 2017
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Shawn Yost, Bas de Wolf, Sandra Hanks, et al.
European Journal of Human Genetics : EJHG
|
March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
Nature Genetics
|
September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.
Human Molecular Genetics
|
June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
Joe Rainger, Hemant Bengani, Leigh Campbell, et al.
American Journal of Medical Genetics. Part A
|
March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
Madeleine Tooley, Danielle Lynch, Francois Bernier, et al.
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of 6
Search research articles
Search
Showing results (31-40 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients
Philip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Clinical Genetics
|
January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
Jessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases
Sahar Mansour, Fiona Connell, Colin Steward, et al.
JCI Insight
|
February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
Vladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Brain : a Journal of Neurology
|
August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
Emanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
Nature Genetics
|
May 30, 2017
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Shawn Yost, Bas de Wolf, Sandra Hanks, et al.
European Journal of Human Genetics : EJHG
|
March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
Nature Genetics
|
September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.
Human Molecular Genetics
|
June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
Joe Rainger, Hemant Bengani, Leigh Campbell, et al.
American Journal of Medical Genetics. Part A
|
March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
Madeleine Tooley, Danielle Lynch, Francois Bernier, et al.
Page
of 6