Zobrazeno 1 - 10
of 6 510
pro vyhledávání: '"Beckwith-Wiedemann Syndrome"'
Autor:
Romeo DJ; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., George AM; Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Sussman JH; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Banala M; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Wiemken A; Division of Sleep Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wu M; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Ng JJ; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Taylor JA; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Schwab RJ; Division of Sleep Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Cielo CM; Division of Pulmonary & Sleep Medicine, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA., Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA. kalishj@chop.edu.; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. kalishj@chop.edu.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 17; Vol. 19 (1), pp. 384. Date of Electronic Publication: 2024 Oct 17.
Autor:
George AM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Viswanathan A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Best LG; Department of Pathology, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, North Dakota, USA., Monahan C; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Limmina M; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ganguly A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63777. Date of Electronic Publication: 2024 Jun 01.
Autor:
Molina LM; Departments of Pathology., Rao A; University of Pittsburgh School of Medicine., Meade J; Pediatrics, University of Pittsburgh Medical Center., Squires JH; Department of Radiology, University of Pittsburgh School of Medicine and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA., Yatsenko SA; Department of Pathology, Stanford School of Medicine, Stanford, CA., Salgado CM; Department of Pathology and Laboratory Medicine, Division of Anatomic Pathology, University of Miami Miller School of Medicine, Miami, FL., Reyes-Múgica M; Department of Pathology and Laboratory Medicine, Division of Anatomic Pathology, University of Miami Miller School of Medicine, Miami, FL.
Publikováno v:
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Nov 01; Vol. 46 (8), pp. 424-428. Date of Electronic Publication: 2024 Oct 14.
Autor:
Bellucca S; Postgraduate School of Pediatrics, University of Torino, Turin, Italy., Carli D; Department of Medical Sciences, University of Turin, Turin, Italy., Gazzin A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Turin, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Torino, Italy., Massuras S; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Torino, Italy; Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy., Cardaropoli S; Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy., Luca M; Department of Medical Sciences, University of Turin, Turin, Italy., Coppo P; Pediatric Dermatology Unit, Regina Margherita Childrens' Hospital, Torino, Italy., Caprioglio M; Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy., La Selva R; Pediatric Dermatology Unit, Regina Margherita Childrens' Hospital, Torino, Italy., Piglionica M; Medical Genetics Section, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University Hospital Consortium Corporation Polyclinics of Bari, Bari, Italy., Bontempo P; Laboratory of Medical Genetics, Molecular Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., D'Elia G; Laboratory of Medical Genetics, Molecular Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Bagnulo R; Medical Genetics Section, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University Hospital Consortium Corporation Polyclinics of Bari, Bari, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Torino, Italy., Resta N; Medical Genetics Section, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University Hospital Consortium Corporation Polyclinics of Bari, Bari, Italy., Mussa A; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Torino, Italy; Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy. Electronic address: alessandro.mussa@unito.it.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2024 Nov; Vol. 274, pp. 114177. Date of Electronic Publication: 2024 Jun 28.
Autor:
Banti M; Embryology Laboratory, Orchid Reproductive and Andrology Services, Dubai, UAE. maria.b@orchid-fertility.com., Kafetzis D; Medical Department, Orchid Reproductive and Andrology Services, Dubai, UAE.
Publikováno v:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Oct; Vol. 41 (10), pp. 2771-2775. Date of Electronic Publication: 2024 Jun 27.
Autor:
Ye M; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Reyes Palomares A; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Iwarsson E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Oberg AS; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Rodriguez-Wallberg KA; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Division of Gynecology and Reproduction, Department of Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden. Electronic address: kenny.rodriguez-wallberg@ki.se.
Publikováno v:
Fertility and sterility [Fertil Steril] 2024 Oct; Vol. 122 (4), pp. 706-714. Date of Electronic Publication: 2024 Jun 01.
Autor:
Bækgaard CH; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Møller-Larsen S; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lauridsen MF; Department of Clinical Genetics, Hospital Lillebaelt, Vejle Hospital, Vejle, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Publikováno v:
Annals of human genetics [Ann Hum Genet] 2024 Sep; Vol. 88 (5), pp. 392-398. Date of Electronic Publication: 2024 May 01.
Autor:
Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-0937, Japan., Yamoto K; Department of Biochemistry, Hamamatsu University School of Medicine, 1‑20‑1 Handayama, Higashi‑ku, Hamamatsu, 431‑3192, Japan., Hara-Isono K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Nakamura A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Kawashima S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Narusawa H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Kosaki R; Department of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Nishimura Y; Department of Neonatology, Hiroshima City Hiroshima Citizens Hospital, 7-33 Motomachi, Naka-Ku, Hiroshima, 730-8518, Japan., Yamazawa K; Medical Genetics Center, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan., Hattori T; Department of Pediatrics, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, 446-8602, Japan., Muramatsu Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Shouwa‑ku, Nagoya, 466‑8560, Japan., Inoue T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Center for Medical Genetics, Chiba Children's Hospital, 579-1 Heta, Midori-Ku, Chiba, 266-0007, Japan., Matsubara K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan., Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, 1‑20‑1 Handayama, Higashi‑ku, Hamamatsu, 431‑3192, Japan.; Department of Pediatrics, Hamamatsu Medical Center, 328 Tomizuka-Cho, Chuo-Ku, Hamamatsu, 432-8580, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan. kagami-ms@ncchd.go.jp.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2024 Oct 05; Vol. 16 (1), pp. 138. Date of Electronic Publication: 2024 Oct 05.
Autor:
Meng LB; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Li Y; Department of Cardiac Surgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Lv T; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Lv C; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Liu L; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Zhang P; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China. zhpdoc@126.com.
Publikováno v:
Journal of cardiothoracic surgery [J Cardiothorac Surg] 2024 Jun 06; Vol. 19 (1), pp. 321. Date of Electronic Publication: 2024 Jun 06.
Autor:
Bridges A; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR., Hwang J; Department of Pediatrics, Oregon Health and Sciences University, Portland, OR., Edwards E; Department of Diagnostic Radiology, Oregon Health and Sciences University, Portland, OR., Feist C; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR., Dukhonvy S; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR.
Publikováno v:
NeoReviews [Neoreviews] 2024 Jul 01; Vol. 25 (7), pp. e457-e465.