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American Journal of Medical Genetics. Part A
|
July 13, 2019
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
Christina Y Hung, Mario Rodriguez, Abra Roberts, et al.
Cell Reports
|
October 8, 2013
TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres
Albert Ribes-Zamora, Sandra M Indiviglio, Ivana Mihalek, et al.
Molecular Genetics and Metabolism
|
June 15, 2007
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III
Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Aya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
Oncogene
|
February 29, 2020
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint
Ines Oršolić, Slađana Bursać, Deana Jurada, et al.
Journal of Molecular Biology
|
January 28, 2003
An accurate, sensitive, and scalable method to identify functional sites in protein structures
Hui Yao, David M Kristensen, Ivana Mihalek, et al.
Nucleic Acids Research
|
November 26, 2013
ExoLocator--an online view into genetic makeup of vertebrate proteins
Aik Aun Khoo, Mario Ogrizek-Tomas, Ana Bulovic, et al.
Biophysical Journal
|
September 18, 2014
Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling
Srinath Krishnamurthy, Balakrishnan Shenbaga Moorthy, Lim Xin Xiang, et al.
Cold Spring Harbor Molecular Case Studies
|
August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure
Mersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
The Journal of Biological Chemistry
|
June 4, 2009
Helix straightening as an activation mechanism in the gelsolin superfamily of actin regulatory proteins
Hui Wang, Sakesit Chumnarnsilpa, Anantasak Loonchanta, et al.
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Search research articles
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Showing results (11-20 of 28) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
July 13, 2019
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
Christina Y Hung, Mario Rodriguez, Abra Roberts, et al.
Cell Reports
|
October 8, 2013
TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres
Albert Ribes-Zamora, Sandra M Indiviglio, Ivana Mihalek, et al.
Molecular Genetics and Metabolism
|
June 15, 2007
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III
Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Aya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
Oncogene
|
February 29, 2020
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint
Ines Oršolić, Slađana Bursać, Deana Jurada, et al.
Journal of Molecular Biology
|
January 28, 2003
An accurate, sensitive, and scalable method to identify functional sites in protein structures
Hui Yao, David M Kristensen, Ivana Mihalek, et al.
Nucleic Acids Research
|
November 26, 2013
ExoLocator--an online view into genetic makeup of vertebrate proteins
Aik Aun Khoo, Mario Ogrizek-Tomas, Ana Bulovic, et al.
Biophysical Journal
|
September 18, 2014
Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling
Srinath Krishnamurthy, Balakrishnan Shenbaga Moorthy, Lim Xin Xiang, et al.
Cold Spring Harbor Molecular Case Studies
|
August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure
Mersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
The Journal of Biological Chemistry
|
June 4, 2009
Helix straightening as an activation mechanism in the gelsolin superfamily of actin regulatory proteins
Hui Wang, Sakesit Chumnarnsilpa, Anantasak Loonchanta, et al.
Page
of 3