Zobrazeno 1 - 10
of 4 748
pro vyhledávání: '"Steroid 21-hydroxylase"'
Autor:
Yan Q; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China., Su H; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China., Jing X; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China., Li S; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China., Ji X; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China., Zhang Z; First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. China., Wang Y; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China., Huang X; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China., Xue T; Department of Clinical Laboratory, Shanxi Provincial People's Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.China., Wu X; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China., Cui X; Reproductive Medicine Center, The affiliated Children's Hospital of Shanxi Medical University, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.China.
Publikováno v:
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2024 Dec; Vol. 40 (1), pp. 2373741. Date of Electronic Publication: 2024 Jul 22.
Autor:
Cera G; Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Fondazione Policlinico 'A. Gemelli' IRCCS, I- 00168 Rome, Italy., Corsello A; Unit of Endocrine Surgery, Ospedale Isola Tiberina-Gemelli Isola, I-00186 Rome, Italy., Novizio R; Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Fondazione Policlinico 'A. Gemelli' IRCCS, I- 00168 Rome, Italy., Di Donna V; Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Fondazione Policlinico 'A. Gemelli' IRCCS, I- 00168 Rome, Italy., Locantore P; Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Fondazione Policlinico 'A. Gemelli' IRCCS, I- 00168 Rome, Italy., Paragliola RM; Departmental Faculty of Medicine, Unicamillus-Saint Camillus International University of Health Sciences, I-00131 Rome, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Nov 02; Vol. 25 (21). Date of Electronic Publication: 2024 Nov 02.
Autor:
Chen X; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Zhao J; Department of Ultrasound, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Li D; Department of Research and Development, Berry Genomics Corporation, Beijing, China., Xi N; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Yi D; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Yan M; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Yin Y; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China., Wang X; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70029.
Autor:
Xia Y; Genetics and Prenatal Diagnosis Center, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Yu F; Genesky Diagnostics (Suzhou) Inc, Rm# 5F, Suite# C13, 218 Xinghu Street, SIP, Suzhou, Jiangsu, China., Bai Y; Genetics and Prenatal Diagnosis Center, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Jiang L; Genesky Diagnostics (Suzhou) Inc, Rm# 5F, Suite# C13, 218 Xinghu Street, SIP, Suzhou, Jiangsu, China., Shi P; Genetics and Prenatal Diagnosis Center, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Jiang Z; Genesky Diagnostics (Suzhou) Inc, Rm# 5F, Suite# C13, 218 Xinghu Street, SIP, Suzhou, Jiangsu, China. zhengwenj@geneskies.com., Kong X; Genetics and Prenatal Diagnosis Center, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. kongxd@263.net.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 28; Vol. 19 (1), pp. 397. Date of Electronic Publication: 2024 Oct 28.
Autor:
Karlekar M; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Barnabas R; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, India., Lila A; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India. Correspondence to: Dr. Anurag Lila, Department of Endocrinology, 103, 1st floor, OPD building, KEM Hospital, Mumbai, Maharashtra, India. anuraglila@gmail.com., Arya S; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Hegishte S; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Bhandare VV; Department of Microbiology, Shivaji University, Kolhapur, Maharashtra, India., Memon SS; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Patil V; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Bandgar T; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India., Kunwar A; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, Maharashtra, India., Shah N; Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
Publikováno v:
Indian pediatrics [Indian Pediatr] 2024 Oct 15; Vol. 61 (10), pp. 966-972. Date of Electronic Publication: 2024 Jul 23.
Autor:
Yuan D; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Cai R; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Mao A; Department of Research and Development, Berry Genomics Corp., Beijing, China., Tan J; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Zhong Q; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Zeng D; Department of Gynecology, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou 545001, Guangxi, China., Tang N; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Wei X; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Huang J; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Zhang Y; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Chen D; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Yang J; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Li Y; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Zheng X; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China., Li J; Department of Research and Development, Berry Genomics Corp., Beijing, China., Li D; Department of Research and Development, Berry Genomics Corp., Beijing, China., Yan T; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China; Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, China. Electronic address: 439078813@qq.com.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 770-780. Date of Electronic Publication: 2024 Jun 24.
Autor:
Ravichandran L; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.; Ph.D. Programme affiliated to, DBT-Regional Centre for Biotechnology (RCB), Faridabad, Haryana, India., Paul S; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India., A R; Department of Medical Genetics, Christian Medical College, Vellore, India., Hs A; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India., Mathai S; Department of Pediatric Endocrinology, Christian Medical College, Vellore, India., Simon A; Department of Pediatric Endocrinology, Christian Medical College, Vellore, India., Danda S; Department of Medical Genetics, Christian Medical College, Vellore, India., Thomas N; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.; DBT, Regional Centre for Biotechnology (RCB), Faridabad, Haryana, India., Chapla A; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India. aaronchapla@gmail.com.; DBT, Regional Centre for Biotechnology (RCB), Faridabad, Haryana, India. aaronchapla@gmail.com.
Publikováno v:
Endocrine [Endocrine] 2024 Jul; Vol. 85 (1), pp. 363-369. Date of Electronic Publication: 2024 Mar 05.
Autor:
Carranza J; Laboratory of Reproductive Biology, Graduate School of Science, Nagoya University, Nagoya, Japan., Yamada K; Laboratory of Reproductive Biology, Graduate School of Science, Nagoya University, Nagoya, Japan., Sakae Y; Division of Cancer Cell Biology, Research Institute for Biomedical Sciences, Tokyo University of Science, Noda, Japan., Noh J; Center for Advanced Biomolecular Recognition, Korea Institute of Science and Technology, Seoul, Republic of Korea., Choi MH; Center for Advanced Biomolecular Recognition, Korea Institute of Science and Technology, Seoul, Republic of Korea., Tanaka M; Laboratory of Reproductive Biology, Graduate School of Science, Nagoya University, Nagoya, Japan, tanaka.minoru.r3@f.mail.nagoya-u.ac.jp.
Publikováno v:
Zoological science [Zoolog Sci] 2024 Jun; Vol. 41 (3), pp. 263-274.
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia- CYP21A2 -R484Q Mutant Mouse.
Autor:
Thirumalasetty SR; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Schubert T; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Naumann R; Transgenic Core Facility, Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany., Reichardt I; Genome Engineering Facility, Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany., Rohm ML; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Landgraf D; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Gembardt F; Division of Nephrology, Medizinische Klinik III, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Peitzsch M; Institute of Clinical Chemistry and Laboratory Medicine, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Hartmann MF; Steroid Research & Mass Spectrometry Unit, Paediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig Universität, 35392 Giessen, Germany., Sarov M; Genome Engineering Facility, Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany., Wudy SA; Steroid Research & Mass Spectrometry Unit, Paediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig Universität, 35392 Giessen, Germany., Reisch N; Medizinische Klinik und Poliklinik IV, LMU Klinikum München, 80336 Munich, Germany., Huebner A; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Koehler K; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 May 07; Vol. 25 (10). Date of Electronic Publication: 2024 May 07.
Autor:
Kara L; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: leyladumann@gmail.com., Cicek D; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: cicekdilek87@hotmail.com., Siraz UG; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: dr.ulku.81@hotmail.com., Erdogan M; Kayseri City Hospital, Department of Medical Genetics, Kayseri, Turkey. Electronic address: drmerdogan40@gmail.com., Sarikaya E; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: sarikaya.emre@gmail.com., Gok E; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: sumanebru@hotmail.com., Berber U; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: drugurberber@gmail.com., Kurtoglu S; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: selimchief@gmail.com., Kendirci M; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: kendirci@erciyes.edu.tr., Hatipoglu N; Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. Electronic address: nihalhatipoglu@yahoo.com.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104952. Date of Electronic Publication: 2024 Jun 07.