Dehneh N, Jarjour R, Idelbi S, Alibrahem A, Al Fahoum S
{"title":"Syrian females with congenital adrenal hyperplasia: a case series","authors":"Dehneh N, Jarjour R, Idelbi S, Alibrahem A, Al Fahoum S","doi":"10.1530/ey.20.11.16","DOIUrl":"https://doi.org/10.1530/ey.20.11.16","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361352","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}
Iakovliev A, McGurnaghan SJ, Hayward C, Colombo M, Lipschutz D, Spiliopoulou A, Colhoun HM, McKeigue PM
{"title":"Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the omnigenic sparse effector hypothesis of complex trait genetics","authors":"Iakovliev A, McGurnaghan SJ, Hayward C, Colombo M, Lipschutz D, Spiliopoulou A, Colhoun HM, McKeigue PM","doi":"10.1530/ey.20.8.17","DOIUrl":"https://doi.org/10.1530/ey.20.8.17","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"70 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361379","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}
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Kohler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC
{"title":"International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach","authors":"Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Kohler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC","doi":"10.1530/ey.20.6.5","DOIUrl":"https://doi.org/10.1530/ey.20.6.5","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361564","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}
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC
{"title":"Perspectives of rare disease experts on newborn genome sequencing","authors":"Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC","doi":"10.1530/ey.20.12.5","DOIUrl":"https://doi.org/10.1530/ey.20.12.5","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361570","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}
Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, Lawson ARJ, Harvey LMR, Bhosle S, Jones D, Alcantara RE, Butler TM, Hooks Y, Roberts K, Anderson E, Lunn S, Flach E, Spiro S, Januszczak I, Wrigglesworth E, Jenkins H, Dallas T, Masters N, Perkins MW, Deaville R, Druce M, Bogeska R, Milsom MD, Neumann B, Gorman F, Constantino-Casas F, Peachey L, Bochynska D, Smith ESJ, Gerstung M, Campbell PJ, Murchison EP, Stratton MR, Martincorena I
{"title":"Somatic mutation rates scale with lifespan across mammals","authors":"Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, Lawson ARJ, Harvey LMR, Bhosle S, Jones D, Alcantara RE, Butler TM, Hooks Y, Roberts K, Anderson E, Lunn S, Flach E, Spiro S, Januszczak I, Wrigglesworth E, Jenkins H, Dallas T, Masters N, Perkins MW, Deaville R, Druce M, Bogeska R, Milsom MD, Neumann B, Gorman F, Constantino-Casas F, Peachey L, Bochynska D, Smith ESJ, Gerstung M, Campbell PJ, Murchison EP, Stratton MR, Martincorena I","doi":"10.1530/ey.20.13.2","DOIUrl":"https://doi.org/10.1530/ey.20.13.2","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"152 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361572","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}
Oichi T, Kodama J, Wilson K, Tian H, Imamura Kawasawa Y, Usami Y, Oshima Y, Saito T, Tanaka S, Iwamoto M, Otsuru S, Enomoto-Iwamoto M
{"title":"Nutrient-regulated dynamics of chondroprogenitors in the postnatal murine growth plate","authors":"Oichi T, Kodama J, Wilson K, Tian H, Imamura Kawasawa Y, Usami Y, Oshima Y, Saito T, Tanaka S, Iwamoto M, Otsuru S, Enomoto-Iwamoto M","doi":"10.1530/ey.20.3.17","DOIUrl":"https://doi.org/10.1530/ey.20.3.17","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361576","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}
van Atteveld JE, de Winter DTC, Pluimakers VG, Fiocco M, Nievelstein RAJ, Hobbelink MGG, de Vries ACH, Loonen JJ, van Dulmen-den Broeder E, van der Pal HJ, Pluijm SMF, Kremer LCM, Ronckers CM, van der Heiden-van der Loo M, Versluijs AB, Louwerens M, Bresters D, van Santen HM, Olsson DS, Hoefer I, van den Berg SAA, den Hartogh J, Tissing WJE, Neggers SJCMM, van den Heuvel-Eibrink MM, LATER study group Dutch
{"title":"Risk and determinants of low and very low bone mineral density and fractures in a national cohort of Dutch adult childhood cancer survivors (DCCSS-LATER): a cross-sectional study","authors":"van Atteveld JE, de Winter DTC, Pluimakers VG, Fiocco M, Nievelstein RAJ, Hobbelink MGG, de Vries ACH, Loonen JJ, van Dulmen-den Broeder E, van der Pal HJ, Pluijm SMF, Kremer LCM, Ronckers CM, van der Heiden-van der Loo M, Versluijs AB, Louwerens M, Bresters D, van Santen HM, Olsson DS, Hoefer I, van den Berg SAA, den Hartogh J, Tissing WJE, Neggers SJCMM, van den Heuvel-Eibrink MM, LATER study group Dutch","doi":"10.1530/ey.20.7.8","DOIUrl":"https://doi.org/10.1530/ey.20.7.8","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361580","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}
Biswas L, Chen J, De Angelis J, Singh A, Owen-Woods C, Ding Z, Pujol JM, Kumar N, Zeng F, Ramasamy SK, Kusumbe AP
{"title":"Lymphatic vessels in bone support regeneration after injury","authors":"Biswas L, Chen J, De Angelis J, Singh A, Owen-Woods C, Ding Z, Pujol JM, Kumar N, Zeng F, Ramasamy SK, Kusumbe AP","doi":"10.1530/ey.20.3.15","DOIUrl":"https://doi.org/10.1530/ey.20.3.15","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"74 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361591","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}
Marko HL, Hornig NC, Betz RC, Holterhus PM, Altmuller J, Thiele H, Fabiano M, Schweikert HU, Braun D, Schweizer U
{"title":"Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development","authors":"Marko HL, Hornig NC, Betz RC, Holterhus PM, Altmuller J, Thiele H, Fabiano M, Schweikert HU, Braun D, Schweizer U","doi":"10.1530/ey.20.4.7","DOIUrl":"https://doi.org/10.1530/ey.20.4.7","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361597","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}
Ravera S, Nicola JP, Salazar-De Simone G, Sigworth FJ, Karakas E, Amzel LM, Bianchet MA, Carrasco N
{"title":"Structural insights into the mechanism of the sodium/iodide symporter","authors":"Ravera S, Nicola JP, Salazar-De Simone G, Sigworth FJ, Karakas E, Amzel LM, Bianchet MA, Carrasco N","doi":"10.1530/ey.20.1.1","DOIUrl":"https://doi.org/10.1530/ey.20.1.1","url":null,"abstract":"","PeriodicalId":471985,"journal":{"name":"Yearbook of pediatric endocrinology","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136361598","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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