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American Journal of Medical Genetics. Part A
|
October 4, 2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes
Ok-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, et al.
Orphanet Journal of Rare Diseases
|
October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Eiko Nagata, Hiroki Kano, Fumiko Kato, et al.
The Journal of Experimental Medicine
|
January 9, 2020
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, et al.
American Journal of Human Genetics
|
May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
American Journal of Human Genetics
|
December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Cellular Signalling
|
July 28, 2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
Tadashi Kaname, Chang-Seok Ki, Norio Niikawa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
American Journal of Human Genetics
|
June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-Yi Xue, et al.
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Search research articles
Search
Showing results (321-330 of 335) with videos related to
Sort By:
Page
of 34
American Journal of Medical Genetics. Part A
|
October 4, 2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes
Ok-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, et al.
Orphanet Journal of Rare Diseases
|
October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Eiko Nagata, Hiroki Kano, Fumiko Kato, et al.
The Journal of Experimental Medicine
|
January 9, 2020
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, et al.
American Journal of Human Genetics
|
May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
American Journal of Human Genetics
|
December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Cellular Signalling
|
July 28, 2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
Tadashi Kaname, Chang-Seok Ki, Norio Niikawa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
American Journal of Human Genetics
|
June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-Yi Xue, et al.
Page
of 34