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在“Elsevier电子期刊”中，命中：173条，耗时：0.0219933 秒

在所有数据库中总计命中：3,178条

1.Preimplantation diagnosis and other modern methods for prenatal diagnosis

作者：Joe Leigh Simpson^a ; ^b ; ^c ; ^{jsimpson@marchofdimes.org} ; Svetlana Rechitsky^b ; ^c

关键词：Preimplantation genetic diagnosis ; Single gene disorders ; Genotype ; Aneuploidy

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

2.New developments in prenatal diagnosis of congenital adrenal hyperplasia

作者：Diya Kazmi¹ ; Jack Bailey¹ ; Maggie Yau ; Wahid Abu-Amer ; Ameet Kumar ; Merly Low ; Tony Yuen ; ^{tony.yuen@mssm.edu}

关键词：Next generation sequencing ; Targeted massively parallel sequencing ; Noninvasive prenatal testing ; NIPT ; Autosomal recessive disorders

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

3.Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males

作者：A. Khattab^a ; M. Yau^a ; A. Qamar^a ; P. Gangishetti^a ; A. Barhen^b ; S. Al-Malki^a ; H. Mistry^a ; W. Anthony^a ; M.B Toralles^c ; Maria I. New^a ; ^{maria.new@mssm.edu}

关键词：21-Hydroxylase deficiency ; Gender assignment ; 46 ; XX Males ; Disorders of sexual development ; Psychosexual development

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

4.Abstract No. 212 - Percutaneous biopsy and radiofrequency ablation for diagnosis and treatment of intraarticular osteoid osteomas at a single pediatric institution

作者：T Akhter¹ ; A Cahill² ; T Donegan² ; S Shellikeri² ; S Vatsky² ; G Krishnamurthy² ; M Keller² ; A Srinivasan²

刊名：Journal of Vascular and Interventional Radiology

出版年：2017

5.Risk of Aortic Dissection in Pregnant Patients With the Marfan Syndrome

作者：Rafael Kuperstein ; MD^a ; ^b ; ^{rafikupe@sheba.health.gov.il} ; Tal Cahan ; MD^b ; ^c ; Rakefet Yoeli-Ullman ; MD^b ; ^c ; Sagit Ben Zekry ; MD^a ; ^b ; Amihay Shinfeld ; MD^b ; ^d ; Michal J. Simchen ; MD^b ; ^c

刊名：The American Journal of Cardiology

出版年：2017

6.Metastatic Prostate Cancer Presenting as Lower Extremity Soft Tissue Mass: A Rare Case Presentation

作者：Paulette Cutruzzula ; Daniel C. Edwards ; ^{deecee.edwards@gmail.com} ; David Cahn ; Carmen Tong ; Dana Kivlin ; Laurence Belkoff

刊名：Urology

出版年：2017

7.An improved micro-method for the measurement of steroid profiles by APPI-LC-MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH

作者：Brian R. Stolze^a ; Verena Gounden^a ; Jianghong Gu^a ; Elizabeth A. Elliott^a ; Likhona S. Masika^a ; Brent S. Abel^b ; Deborah P. Merke^d ; Monica C. Skarulis^b ; Steven J. Soldin^a ; ^c ; ^{steven.soldin@nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：DHEA ; dehydroepiandrosterone ; DHT ; dihydrotestosterone ; 17 OHP ; 17α-hydroxyprogesterone ; 21-OHD ; 21-hydroxylase deficiency ; CAH ; ongenital adrenal hyperplasia ; HSD ; 3α-hydroxysteroid dehydrogenase ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; tandem mass spectrometry ; PCOS ; polycystic ovarian syndrome ; IS ; internal standard ; APPI ; atmospheric pressure photoionization ; TCC ; thermostat column compartment ; LOQ ; lower limit of quantitation ; LOD ; lower limit of detection ; 21-DOC ; 21-deoxycortisol ; 11-

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

8.White Paper on P4 Concepts for Pediatric Imaging

作者：Heike E. Daldrup-Link ; MD ; PhD^a ; ^{heiked@stanford.edu" class="auth_mail" title="E-mail the corresponding author} ; Christina Sammet ; PhD^c ; Marta Hernanz-Schulman ; MD^k ; Katherine A. Barsness ; MD^c ; Anne Marie Cahill ; MB Bch ; BAO^d ; Ellen Chung ; MD^e ; Andrea S. Doria ; MD ; PhD^f ; Kassa Darge ; MD ; PhD^d ; Rajesh Krishnamurthy ; MD^g ; Matthew P. Lungren ; MD ; MPH^a ; Sheila Moore ; MD^b ; Laura Olivieri ; MD^h ; Ashok Panigrahy ; MD^b ; Alexander J. Towbin ; MDⁱ ; Andrew Trout ; MDⁱ ; Stephan Voss ; MD ; PhD^j

关键词：Pediatric imaging ; preventive medicine ; personalized medicine ; participatory diagnosis ; Image Gently ; ALARA

刊名：Journal of the American College of Radiology

出版年：2016

9.Disorders of sex development

作者：Mark Woodward ; Rebecca Roberts

关键词：CAH ; congenital adrenal hyperplasia ; disorders of sex development ; DSD ; hypospadias ; intersex

刊名：Surgery (Oxford)

出版年：2016

10.21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations

作者：Ruifang Wang¹ ; Yongguo Yu¹ ; Jun Ye ; Lianshu Han ; Wenjuan Qiu ; Huiwen Zhang ; Lili Liang ; Zhuwen Gong ; Lili Wang ; Xuefan Gu ; ^{gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CAH ; congenital adrenal hyperplasia ; 21-OHD ; 21-hydroxylase deficiency ; CYP21A2 ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 2 ; MLPA ; multiplex ligation-dependent probe amplification ; SW ; salt-wasting ; SV ; simple virilizing ; NC ; nonclassical ; CYP21A1P ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 1 pseudogene ; HGMD ; Human Gene Mutation database ; 17-OHP ; 17-hydroxyprogesterone ; I2G ; the intron 2 splice site mutation ; ppv ; positive predictive value ; Del ; large gene deletions ; ACTH

刊名：Steroids

出版年：2016

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