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American Journal of Human Genetics
|
March 1, 2016
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Ellen Knierim, Hiromi Hirata, Nicole I Wolf, et al.
Nature Communications
|
December 15, 2025
LncRNA CISTR-ACT regulates cell size in human and mouse by guiding FOSL2
Katerina Kiriakopulos, Katty Soleimanpour, Brandon J McMurray, et al.
American Journal of Human Genetics
|
July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
Sevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
Journal of Medical Genetics
|
December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Felix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Felix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Nature Communications
|
October 9, 2023
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.
Nature Communications
|
April 11, 2023
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.
Nature Genetics
|
May 12, 2015
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
Philipp G Maass, Atakan Aydin, Friedrich C Luft, et al.
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of 8
Search research articles
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Showing results (71-80 of 79) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 79 results.
American Journal of Human Genetics
|
March 1, 2016
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Ellen Knierim, Hiromi Hirata, Nicole I Wolf, et al.
Nature Communications
|
December 15, 2025
LncRNA CISTR-ACT regulates cell size in human and mouse by guiding FOSL2
Katerina Kiriakopulos, Katty Soleimanpour, Brandon J McMurray, et al.
American Journal of Human Genetics
|
July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
Sevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
Journal of Medical Genetics
|
December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Felix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Felix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Nature Communications
|
October 9, 2023
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.
Nature Communications
|
April 11, 2023
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Uirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.
Nature Genetics
|
May 12, 2015
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
Philipp G Maass, Atakan Aydin, Friedrich C Luft, et al.
Page
of 8