标题
Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 169, Issue 4, Pages 314-327
出版商
Wiley
发表日期
2015-11-04
DOI
10.1002/ajmg.c.31466
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Long-term treatment outcomes in Gaucher disease
- (2015) Joel Charrow et al. AMERICAN JOURNAL OF HEMATOLOGY
- Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
- (2015) Frank Rauch et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
- (2015) Lutz Garbes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
- (2015) Maria Wilbe et al. JOURNAL OF MEDICAL GENETICS
- Short-term and long-term effects of osteoporosis therapies
- (2015) Ian R. Reid Nature Reviews Endocrinology
- Stuve-Wiedemann syndrome: Is it underrecognized?
- (2014) Gözde Yeşil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Liver, Pancreas and Kidney Transplantation for the Treatment of Wolcott-Rallison Syndrome
- (2014) A. G. Tzakis et al. AMERICAN JOURNAL OF TRANSPLANTATION
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
- (2014) M Brigita Tan-Sindhunata et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Connective tissue alterations in Fkbp10−/− mice
- (2014) Caressa D. Lietman et al. HUMAN MOLECULAR GENETICS
- Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia
- (2014) Jérémie Silvent et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment
- (2014) Stephen G. Kaler JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
- Therapeutic management of hypophosphatemic rickets from infancy to adulthood
- (2014) Agnès Linglart et al. Endocrine Connections
- FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
- (2013) Sheila Unger et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
- (2013) Fransiska Malfait et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery
- (2013) Joyce Solomons et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Osteopetrosis: genetics, treatment and new insights into osteoclast function
- (2013) Cristina Sobacchi et al. Nature Reviews Endocrinology
- Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis
- (2012) Y Indo CLINICAL GENETICS
- Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
- (2012) Maria Trinidad Puig-Hervás et al. HUMAN MUTATION
- Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix
- (2012) Aileen M. Barnes et al. HUMAN MUTATION
- Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
- (2011) Bertrand Isidor et al. NATURE GENETICS
- PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
- (2009) Céline Gaucher et al. HUMAN GENETICS
- Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
- (2009) S. S. Cathey et al. JOURNAL OF MEDICAL GENETICS
- Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC
- (2008) Omer Bar-Yosef et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
- (2008) Kathleen S. Hruska et al. HUMAN MUTATION
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