Sentchordi-Montane L, Benito-Sanz S, A. M, D. F, Modamio-Hoybjor S, Torre C De la, Nevado J, R. P, Bezanilla-Lopez C, Prieto P, Bahillo-Curieses P, C. A, Mulero-Collantes I, Barreda-Bonis Ac, C. J., Ramirez-Fernandez J, la Vega JA Bermudez de, Travess Am, Gonzalez de Buitrago Amigo J, D. A, Vallespin E, Solis M, G. C., Campos-Barros A, S. F, G. I., R. P, P. M., Heath Ke
{"title":"High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies","authors":"Sentchordi-Montane L, Benito-Sanz S, A. M, D. F, Modamio-Hoybjor S, Torre C De la, Nevado J, R. P, Bezanilla-Lopez C, Prieto P, Bahillo-Curieses P, C. A, Mulero-Collantes I, Barreda-Bonis Ac, C. J., Ramirez-Fernandez J, la Vega JA Bermudez de, Travess Am, Gonzalez de Buitrago Amigo J, D. A, Vallespin E, Solis M, G. C., Campos-Barros A, S. F, G. I., R. P, P. M., Heath Ke","doi":"10.1530/ey.19.4.9","DOIUrl":"https://doi.org/10.1530/ey.19.4.9","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"14 1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89651541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fasolino M, Schwartz Gw, Patil Ar, Mongia A, Golson Ml, Wang Yj, Morgan A, L. C, Schug J, Liu J, Wu M, Traum D, K. A., Maynard Cl, Goldman N, W. W, Feldman M, Moore Jh, Japp As, Betts Mr, Hpap Consortium, Faryabi Rb, Naji A, Kaestner Kh, V. G.
{"title":"Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes","authors":"Fasolino M, Schwartz Gw, Patil Ar, Mongia A, Golson Ml, Wang Yj, Morgan A, L. C, Schug J, Liu J, Wu M, Traum D, K. A., Maynard Cl, Goldman N, W. W, Feldman M, Moore Jh, Japp As, Betts Mr, Hpap Consortium, Faryabi Rb, Naji A, Kaestner Kh, V. G.","doi":"10.1530/ey.19.10.15","DOIUrl":"https://doi.org/10.1530/ey.19.10.15","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88521387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stem cell based models in congenital hyperinsulinism - perspective on practicalities and possibilities","authors":"Lithovius V, Otonkoski T","doi":"10.1530/ey.19.2.7","DOIUrl":"https://doi.org/10.1530/ey.19.2.7","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"73 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76451467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ferreira Cr, Kintzinger K, Hackbarth Me, Botschen U, N. Y, Mughal Mz, Baujat G, S. D, Yuen E, Gahl Wa, Gafni Ri, L. Q, H. P., Khursigara G, Rutsch F
{"title":"Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies","authors":"Ferreira Cr, Kintzinger K, Hackbarth Me, Botschen U, N. Y, Mughal Mz, Baujat G, S. D, Yuen E, Gahl Wa, Gafni Ri, L. Q, H. P., Khursigara G, Rutsch F","doi":"10.1530/ey.19.5.7","DOIUrl":"https://doi.org/10.1530/ey.19.5.7","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74760478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Byh, W. A, Finer S, Day Fr, Tadross Ja, A. Soares, Wade K, S. P., Bedenbaugh Mn, Porter Dt, M. A, Ellacott Klj, Lippert Rn, Buller S, Rosmaninho-Salgado J, Dowsett Gkc, Ridley Ke, X. Z, Cimino I, Rimmington D, R. K, Duckett K, Holmqvist S, K. A, Dai X, Bochukova X, G. X., Martin X, Coll X, Rowitch X, W. X., van Heel X, Timpson X, Simerly X, Ong X, Cone X, L. X., P. X, Y. X., O'Rahilly X
{"title":"MC3R links nutritional state to childhood growth and the timing of puberty","authors":"L. Byh, W. A, Finer S, Day Fr, Tadross Ja, A. Soares, Wade K, S. P., Bedenbaugh Mn, Porter Dt, M. A, Ellacott Klj, Lippert Rn, Buller S, Rosmaninho-Salgado J, Dowsett Gkc, Ridley Ke, X. Z, Cimino I, Rimmington D, R. K, Duckett K, Holmqvist S, K. A, Dai X, Bochukova X, G. X., Martin X, Coll X, Rowitch X, W. X., van Heel X, Timpson X, Simerly X, Ong X, Cone X, L. X., P. X, Y. X., O'Rahilly X","doi":"10.1530/ey.19.7.12","DOIUrl":"https://doi.org/10.1530/ey.19.7.12","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"60 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78691824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dalgin G, Tryba Ak, Cohen Ap, Park Sy, Philipson Lh, Greeley Saw, Garcia Aj
{"title":"Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes","authors":"Dalgin G, Tryba Ak, Cohen Ap, Park Sy, Philipson Lh, Greeley Saw, Garcia Aj","doi":"10.1530/ey.19.2.12","DOIUrl":"https://doi.org/10.1530/ey.19.2.12","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82146198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Vitamin D level and fractures in children and adolescents: a systematic review and meta-analysis","authors":"Zheng C, L. H, Rong S, L. L, Z. K., L. K","doi":"10.1530/ey.19.5.6","DOIUrl":"https://doi.org/10.1530/ey.19.5.6","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86000785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The mediating pathways between parental separation in childhood and offspring hypertension at midlife","authors":"Stannard S, Berrington A, Alwan Na","doi":"10.1530/ey.19.8.17","DOIUrl":"https://doi.org/10.1530/ey.19.8.17","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"72 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81712682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Y. T, M. K, Miyado M, Miyashiro Y, Sago H, Horikawa R, Fukami M
{"title":"Quantification of androgens and their precursors in full-term human placenta","authors":"Y. T, M. K, Miyado M, Miyashiro Y, Sago H, Horikawa R, Fukami M","doi":"10.1530/ey.19.14.4","DOIUrl":"https://doi.org/10.1530/ey.19.14.4","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"362 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82989228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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