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American Journal of Human Genetics
|
December 29, 2015
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E Prescott, et al.
Nature Genetics
|
November 26, 2009
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Marielle Alders, Benjamin M Hogan, Evisa Gjini, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Plos One
|
April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
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of 2
Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 16 results.
American Journal of Human Genetics
|
December 29, 2015
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E Prescott, et al.
Nature Genetics
|
November 26, 2009
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Marielle Alders, Benjamin M Hogan, Evisa Gjini, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Plos One
|
April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Page
of 2