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American Journal of Medical Genetics. Part A
|
April 2, 2024
The society for craniofacial genetics and developmental biology 46th annual meeting
Samantha A Brugmann, David E Clouthier, Katherine A Fantauzzo, et al.
Plos One
|
September 3, 2015
Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression
Stefanie Jeruschke, Kay Jeruschke, Andrew DiStasio, et al.
American Journal of Medical Genetics. Part A
|
October 11, 2025
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder
Iftekhar A Showpnil, Allison Daley, Emily R Sites, et al.
Clinical Genetics
|
November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome
Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
Development (Cambridge, England)
|
February 15, 2023
Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations
Ryan P Liegel, Megan N Michalski, Sanika Vaidya, et al.
Human Molecular Genetics
|
October 17, 2017
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly
Andrew DiStasio, Ashley Driver, Kristen Sund, et al.
Experimental Neurology
|
May 29, 2019
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
Marshall Lukacs, Jonathan Gilley, Yi Zhu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
Rebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, et al.
Journal of Neurogenetics
|
November 8, 2002
A novel mutation in the gene encoding noggin is not causative in human neural tube defects
Kim A Bauer, Timothy M George, David S Enterline, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implications
K Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
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of 8
Search research articles
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Showing results (51-60 of 73) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
April 2, 2024
The society for craniofacial genetics and developmental biology 46th annual meeting
Samantha A Brugmann, David E Clouthier, Katherine A Fantauzzo, et al.
Plos One
|
September 3, 2015
Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression
Stefanie Jeruschke, Kay Jeruschke, Andrew DiStasio, et al.
American Journal of Medical Genetics. Part A
|
October 11, 2025
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder
Iftekhar A Showpnil, Allison Daley, Emily R Sites, et al.
Clinical Genetics
|
November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome
Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
Development (Cambridge, England)
|
February 15, 2023
Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations
Ryan P Liegel, Megan N Michalski, Sanika Vaidya, et al.
Human Molecular Genetics
|
October 17, 2017
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly
Andrew DiStasio, Ashley Driver, Kristen Sund, et al.
Experimental Neurology
|
May 29, 2019
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
Marshall Lukacs, Jonathan Gilley, Yi Zhu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
Rebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, et al.
Journal of Neurogenetics
|
November 8, 2002
A novel mutation in the gene encoding noggin is not causative in human neural tube defects
Kim A Bauer, Timothy M George, David S Enterline, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implications
K Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
Page
of 8