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BMC Ophthalmology
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November 17, 2022
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
Nelson Chen, Hane Lee, Angela H Kim, et al.
Nature
|
November 26, 2010
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
Ramin Nazarian, Hubing Shi, Qi Wang, et al.
Clinical Genetics
|
March 17, 2026
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, et al.
Genes, Chromosomes & Cancer
|
November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Rina Kansal, Xinmin Li, Joseph Shen, et al.
NPJ Genomic Medicine
|
January 22, 2025
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Heonjong Han, Go Hun Seo, Seong-In Hyun, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)
Jirat Chenbhanich, Yan Hu, Steven Hetts, et al.
Elife
|
May 23, 2018
A homozygous loss-of-function <i>CAMK2A</i> mutation causes growth delay, frequent seizures and severe intellectual disability
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.
Nature Communications
|
March 8, 2012
Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance
Hubing Shi, Gatien Moriceau, Xiangju Kong, et al.
Nature Genetics
|
May 29, 2012
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
Valerie A Arboleda, Hane Lee, Rahul Parnaik, et al.
Investigative Ophthalmology & Visual Science
|
May 4, 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
Yin-Hsi Chang, Eugene Yu-Chuan Kang, Pei-Kang Liu, et al.
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of 14
Search research articles
Search
Showing results (71-80 of 134) with videos related to
Sort By:
Page
of 14
BMC Ophthalmology
|
November 17, 2022
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
Nelson Chen, Hane Lee, Angela H Kim, et al.
Nature
|
November 26, 2010
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
Ramin Nazarian, Hubing Shi, Qi Wang, et al.
Clinical Genetics
|
March 17, 2026
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, et al.
Genes, Chromosomes & Cancer
|
November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Rina Kansal, Xinmin Li, Joseph Shen, et al.
NPJ Genomic Medicine
|
January 22, 2025
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Heonjong Han, Go Hun Seo, Seong-In Hyun, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)
Jirat Chenbhanich, Yan Hu, Steven Hetts, et al.
Elife
|
May 23, 2018
A homozygous loss-of-function <i>CAMK2A</i> mutation causes growth delay, frequent seizures and severe intellectual disability
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.
Nature Communications
|
March 8, 2012
Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance
Hubing Shi, Gatien Moriceau, Xiangju Kong, et al.
Nature Genetics
|
May 29, 2012
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
Valerie A Arboleda, Hane Lee, Rahul Parnaik, et al.
Investigative Ophthalmology & Visual Science
|
May 4, 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
Yin-Hsi Chang, Eugene Yu-Chuan Kang, Pei-Kang Liu, et al.
Page
of 14