المؤلفون: Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P.O., Nikkel, S.M., Ohashi, H., Miyahara, H., Eriksson, G., Ha, T., Utine, G.E., Chiu, T., Shimizu, K., Hammarsjo, A., Boduroglu, K., Arts, P., Babic, M., Jackson, M.R., Papadogiannakis, N., Lindstrand, A., Nordgren, A.

المصدر: http://dx.doi.org/10.1002/jbmr.4799.

مصطلحات موضوعية: Skeletal dysplasia, ADAMTSL2, neonatal lethal, geleophysic dysplasia, Al-Gazali skeletal dysplasia, bone sclerosis

وصف الملف: application/pdf

Relation: http://purl.org/au-research/grants/nhmrc/1123341; http://purl.org/au-research/grants/nhmrc/GNT1113531; Journal of Bone and Mineral Research, 2023; 38(5):692-706; https://hdl.handle.net/2440/137907; Arts, P. [0000-0002-6742-6239]; Barnett, C.P. [0000-0003-1717-3824]; Scott, H.S. [0000-0002-5813-631X]

الاتاحة: https://hdl.handle.net/2440/137907
https://doi.org/10.1002/jbmr.4799

المؤلفون: Roger E. Stevenson, Raymond J. Louie, Eric G. Bend

المصدر: Clinical Dysmorphology. 28:71-73

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Fetal Edema, medicine.disease_cause, Pathology and Forensic Medicine, Proto-Oncogene Proteins p21(ras), Germline mutation, Costello syndrome, Intellectual disability, Humans, Medicine, HRAS, Genetics (clinical), Mutation, business.industry, Costello Syndrome, Infant, Newborn, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Neonatal lethal, Anatomy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ab6784d21b5c92b0219248bf03afab
https://doi.org/10.1097/mcd.0000000000000260

المؤلفون: Yasushi Okazaki, Yuki Sato, Chika Takano, Kei Murayama, Ryoji Aoki, Erika Ogawa, Nobuhiko Nagano, Ryota Kato, Mika Ishige, Ichiro Morioka, Ayako Seimiya

المصدر: Science Progress. 104:003685042110118

مصطلحات موضوعية: 0301 basic medicine, Brain Diseases, Mutation, Pathology, medicine.medical_specialty, Mitochondrial Diseases, Multidisciplinary, Cysts, Mitochondrial disease, Infant, Newborn, Brain, Biology, medicine.disease, medicine.disease_cause, Subependymal Pseudocyst, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, IBA57 gene, medicine, Subependymal zone, Humans, In patient, Neonatal lethal, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e0e5e758bc1d3524f25ef20f32fcfd
https://doi.org/10.1177/00368504211011873

المؤلفون: Nathalie Major, W. James. King, Sarah M. Nikkel

المصدر: Clinical Case Reports

مصطلحات موضوعية: thanatophoric dysplasia, Pediatrics, medicine.medical_specialty, Thanatophoric dysplasia, business.industry, Cognition, Case Reports, General Medicine, Ventilator dependence, medicine.disease, Stenosis, FGFR3, survivor, medicine, Neonatal lethal, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b99f8f94dc655760d125773a8f31e9b
https://doi.org/10.1002/ccr3.29

المؤلفون: Donald Peebles, Simon N. Waddington, Jerry Kok Yen Chan, Ahad A. Rahim, Suzanne M. K. Buckley

المصدر: Therapeutic Delivery. 2:483-491

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Genetic Vectors, Gene Transfer Techniques, Perinatal care, Pharmaceutical Science, Neurodegenerative Diseases, Genetic Therapy, Disease, Dependovirus, Gene delivery, Bioinformatics, Genetic therapy, Perinatal Care, Animals, Humans, Medicine, Limited capacity, Neonatal lethal, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed66d62b2d925a303691e743f28d4e2
https://doi.org/10.4155/tde.11.16

المؤلفون: Laura Castells, Felix Muñiz, Pía Cassanello, María José de Castro, María L. Couce

المصدر: Medicine

مصطلحات موضوعية: Male, Fatal outcome, Perinatal Death, Hypophosphatasia, Disease, Metabolic bone disease, Diagnosis, Differential, asfotase alfa, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, 030225 pediatrics, rickets, Humans, Medicine, Clinical Case Report, 030212 general & internal medicine, business.industry, Infant, Newborn, respiratory failure, ALPL, General Medicine, medicine.disease, Immunology, Neonatal lethal, Tissue-nonspecific Alkaline Phosphatase, business, alkaline phosphatase, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b7a280b43fdb53ed7d7586b6b7d7be
https://doi.org/10.1097/md.0000000000013269

المؤلفون: Josephine Andrea Napoli, Ben Fogelgren, Amanda J. Lee, Kadee-Kalia Tamashiro, Chad B. Walton, Noemi Polgar, Vanessa H. Lui

المصدر: The FASEB Journal. 29

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Genetics, Medicine, Neonatal lethal, business, Molecular Biology, Biochemistry, Gastroenterology, Obstructive Nephropathy, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4011d18ff91021626a966e90cebab5ec
https://doi.org/10.1096/fasebj.29.1_supplement.665.13

المؤلفون: Lars Fredrik Engebretsen, Knut Gjelland, Karen Rosendahl, Øystein E. Olsen, Ole J. Halvorsen, Karl Maurseth

المصدر: Pediatric Radiology. 31:663-668

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Axial skeleton, Horizontal ribs, Dwarfism, medicine, Humans, Radiology, Nuclear Medicine and imaging, Fetal Death, Bone Diseases, Developmental, Ossification, business.industry, Infant, Newborn, Syndrome, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Radiography, medicine.anatomical_structure, Literature research, Pediatrics, Perinatology and Child Health, Female, Neonatal lethal, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d41a705d2c41529d07c40519dae93d
https://doi.org/10.1007/s002470100520

المؤلفون: Hudson H. Freeze

المصدر: New England Journal of Medicine. 362:266-267

مصطلحات موضوعية: Glycosylation, Basic science, ved/biology.organism_classification_rank.species, Golgi Apparatus, Genes, Recessive, Mice, Transgenic, Biology, Endoplasmic Reticulum, Osteochondrodysplasias, Genetic analysis, Article, Mice, Chondrocytes, Animals, Humans, Achondrogenesis type 1A, Model organism, Gene, Genetics, ved/biology, Nuclear Proteins, General Medicine, Phenotype, Reverse genetics, Cytoskeletal Proteins, Codon, Nonsense, Neonatal lethal, Protein Processing, Post-Translational

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::955bfd5f7ec8e8d7838f075a0c4eb2e8
https://doi.org/10.1056/nejme0911455

المؤلفون: Alex E. Kan, Kazimierz Kozlowski

المصدر: American journal of medical genetics. 43(5)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Raine syndrome, Facial Bones, Osteosclerosis, medicine, Exophthalmos, Humans, Craniofacial, Sclerotic bone, Genetics (clinical), business.industry, fungi, Skull, Infant, Newborn, Anatomy, Syndrome, medicine.disease, Osteochondrodysplasia, medicine.anatomical_structure, Dysplasia, Microcephaly, Female, Neonatal lethal, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b9755ddf8ddb7fbd1c5cb8a645859c3
https://pubmed.ncbi.nlm.nih.gov/1642277

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 9, Iss 10, Pp 74-74 (1995)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Cerebral dysgenesis, lcsh:RJ1-570, lcsh:Pediatrics, Oligohydramnios, carnitine palmitoyltransferase ii, medicine.disease, digestive system diseases, humanities, Cranial ultrasound, Endocrinology, Internal medicine, Medicine, Carnitine palmitoyltransferase II, Neonatal lethal, Carnitine, oligohydramnios, business, cranial ultrasound, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354c6c4286433b159a03b6cb786271e4
https://doi.org/10.15844/pedneurbriefs-9-10-3

المؤلفون: Salome Gluecksohn-Waelsch, Michael B. Schiffman, M.H. Moscona

المصدر: Developmental Biology. 45:369-371

مصطلحات موضوعية: Male, Heterozygote, Albinism, Mutant, Biology, Eye, Genome, Mice, Glutamate-Ammonia Ligase, Glutamine synthetase, Diseases in Pregnancy, Animals, Allele, Molecular Biology, Alleles, chemistry.chemical_classification, Myocardium, Homozygote, Brain, Proteins, Cell Biology, Metabolism, Molecular biology, Enzyme, Liver, chemistry, Female, Genes, Lethal, Neonatal lethal, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9448c1bb9469cffbe4769c76a7e765
https://doi.org/10.1016/0012-1606(75)90075-5

المؤلفون: B. R. Pettit, J-M. Saudubray, Joëlle Boué, Ronald A. Chalmers, B. M. Tracey, G. S. King, R. G. F. Gray, F. Rocchiccioli, J. W. Keeling, D. Watson, R.H. Lindenbaum

المصدر: The Lancet. 323:846-847

مصطلحات موضوعية: Glutaricaciduria, medicine.medical_specialty, business.industry, Obstetrics, Medicine, Prenatal diagnosis, General Medicine, Neonatal lethal, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ecce1c03662608e31481d1aed37f417b
https://doi.org/10.1016/s0140-6736(84)92290-6

المؤلفون: David W. Rowe, Arnold J. Altman, Michael J Poirier

المصدر: Pediatric Research. 15:568-568

مصطلحات موضوعية: medicine.medical_specialty, Chemistry, Genetic heterogeneity, Anatomy, medicine.disease, Phenotype, Endocrinology, Osteogenesis imperfecta, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Collagenase, Neonatal lethal, Abnormality, Polyacrylamide gel electrophoresis, Type I collagen, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a63e644853069336001adea2ef3b4441
https://doi.org/10.1203/00006450-198104001-00778