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American Journal of Medical Genetics. Part A
|
September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Medical Genetics. Part A
|
October 6, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease
Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Yoko Narumi, Byung-Joo Min, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2009
A ZRS duplication causes syndactyly type IV with tibial hypoplasia
Lingqian Wu, Desheng Liang, Norio Niikawa, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 16, 2004
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients
Maki Fukami, Reiko Horikawa, Toshiro Nagai, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A
|
October 17, 2007
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability
Eiji Nakashima, Joseph R Tran, Tim J M Welting, et al.
Clinical Genetics
|
September 6, 2024
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Pernille Axél Gregersen, Anna Hammarsjö, Lise Graversen, et al.
The Journal of Obstetrics and Gynaecology Research
|
December 17, 2010
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
Takahiro Yamada, Gen Nishimura, Keiichiro Nishida, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Hillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
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Search research articles
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Showing results (251-260 of 335) with videos related to
Sort By:
Page
of 34
American Journal of Medical Genetics. Part A
|
September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Medical Genetics. Part A
|
October 6, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease
Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Yoko Narumi, Byung-Joo Min, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2009
A ZRS duplication causes syndactyly type IV with tibial hypoplasia
Lingqian Wu, Desheng Liang, Norio Niikawa, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 16, 2004
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients
Maki Fukami, Reiko Horikawa, Toshiro Nagai, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A
|
October 17, 2007
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability
Eiji Nakashima, Joseph R Tran, Tim J M Welting, et al.
Clinical Genetics
|
September 6, 2024
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Pernille Axél Gregersen, Anna Hammarsjö, Lise Graversen, et al.
The Journal of Obstetrics and Gynaecology Research
|
December 17, 2010
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
Takahiro Yamada, Gen Nishimura, Keiichiro Nishida, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Hillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
Page
of 34