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American Journal of Medical Genetics. Part A
|
July 2, 2015
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly
Masaki Takagi, Masanori Kouwaki, Koya Kawase, et al.
Human Genome Variation
|
January 15, 2020
Normal early development in siblings with novel compound heterozygous variants in <i>ASPM</i>
Taro Moriwaki, Narutoshi Yamazaki, Tetsumin So, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2015
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
Maria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui, et al.
The Journal of Physiological Sciences : JPS
|
July 11, 2020
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Yoshiro Suzuki, Hirotake Sawada, Tomoko Tokumasu, et al.
Journal of Pediatric Genetics
|
August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)
Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.
Orphanet Journal of Rare Diseases
|
January 6, 2016
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
October 20, 2021
SLC4A2 Deficiency Causes a New Type of Osteopetrosis
Jing-Yi Xue, Giedre Grigelioniene, Zheng Wang, et al.
European Journal of Medical Genetics
|
December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Mutation
|
November 30, 2018
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Katta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, et al.
Molecular Syndromology
|
May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis
Yuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
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Search research articles
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Showing results (181-190 of 335) with videos related to
Sort By:
Page
of 34
American Journal of Medical Genetics. Part A
|
July 2, 2015
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly
Masaki Takagi, Masanori Kouwaki, Koya Kawase, et al.
Human Genome Variation
|
January 15, 2020
Normal early development in siblings with novel compound heterozygous variants in <i>ASPM</i>
Taro Moriwaki, Narutoshi Yamazaki, Tetsumin So, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2015
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
Maria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui, et al.
The Journal of Physiological Sciences : JPS
|
July 11, 2020
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Yoshiro Suzuki, Hirotake Sawada, Tomoko Tokumasu, et al.
Journal of Pediatric Genetics
|
August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)
Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.
Orphanet Journal of Rare Diseases
|
January 6, 2016
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
October 20, 2021
SLC4A2 Deficiency Causes a New Type of Osteopetrosis
Jing-Yi Xue, Giedre Grigelioniene, Zheng Wang, et al.
European Journal of Medical Genetics
|
December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Mutation
|
November 30, 2018
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Katta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, et al.
Molecular Syndromology
|
May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis
Yuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
Page
of 34