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The Journal of Dermatology
|
May 12, 2015
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation
Salma Ben-Salem, Sobreira Nara, Aisha M Al-Shamsi, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
Lilei Zhang, Tao Wang, Alan F Wright, et al.
JIMD Reports
|
June 21, 2018
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
Jasmine Lee-Barber, Taylor E English, Jacquelyn F Britton, et al.
Genome Research
|
April 10, 2007
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation
Lilei Zhang, Chunfa Jie, Cassandra Obie, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2014
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias
Nara Sobreira, Peggy Modaff, Gary Steel, et al.
International Journal of Molecular Sciences
|
March 13, 2024
Use of microRNAs as Diagnostic, Prognostic, and Therapeutic Tools for Glioblastoma
David Valle-Garcia, Verónica Pérez de la Cruz, Itamar Flores, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Angela Pipitone, Donna B Raval, Jessica Duis, et al.
American Journal of Human Genetics
|
January 22, 2005
Functional consequences of PRODH missense mutations
Hans-Ulrich Bender, Shlomo Almashanu, Gary Steel, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
July 5, 2015
Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)
Thomas J Gniadek, Nicole Singer, Norman J Barker, et al.
JIMD Reports
|
May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem
RaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
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of 15
Search research articles
Search
Showing results (41-50 of 146) with videos related to
Sort By:
Page
of 15
The Journal of Dermatology
|
May 12, 2015
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation
Salma Ben-Salem, Sobreira Nara, Aisha M Al-Shamsi, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
Lilei Zhang, Tao Wang, Alan F Wright, et al.
JIMD Reports
|
June 21, 2018
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
Jasmine Lee-Barber, Taylor E English, Jacquelyn F Britton, et al.
Genome Research
|
April 10, 2007
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation
Lilei Zhang, Chunfa Jie, Cassandra Obie, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2014
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias
Nara Sobreira, Peggy Modaff, Gary Steel, et al.
International Journal of Molecular Sciences
|
March 13, 2024
Use of microRNAs as Diagnostic, Prognostic, and Therapeutic Tools for Glioblastoma
David Valle-Garcia, Verónica Pérez de la Cruz, Itamar Flores, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Angela Pipitone, Donna B Raval, Jessica Duis, et al.
American Journal of Human Genetics
|
January 22, 2005
Functional consequences of PRODH missense mutations
Hans-Ulrich Bender, Shlomo Almashanu, Gary Steel, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
July 5, 2015
Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)
Thomas J Gniadek, Nicole Singer, Norman J Barker, et al.
JIMD Reports
|
May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem
RaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
Page
of 15