Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Hans-Georg O. Bock"'
Autor:
Carlos A. Bacino, Janice L. Smith, Ping Fang, Pawel Stankiewicz, Patricia Hixson, William J. Craigen, Hans Georg O Bock, Ankita Patel, Przemyslaw Szafranski, Daniel Kinney, Sau Wai Cheung, Weimin Bi, Sailaja Golla, Reuben Matalon, Weihong Jin
Publikováno v:
European Journal of Human Genetics. 23:915-921
Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders. To date, only larger-sized (8-21 Mb) duplications harboring
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df2e2128fe870cfb04f3dedfe01a68b1
https://doi.org/10.1038/ejhg.2014.217
https://doi.org/10.1038/ejhg.2014.217
Autor:
George Moll, Hans-Georg O. Bock
Publikováno v:
Endocrine Practice. 7:467-473
Objective To describe the early detection of two tumors in two children by recognition of unusual features in initial thyroid assessments. Methods We present the clinical findings and results of laboratory studies in two children. In addition, we des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::031d8f18b82848e8f151b9d6b70a5e15
https://doi.org/10.4158/ep.7.6.467
https://doi.org/10.4158/ep.7.6.467
Autor:
Hans-Georg O. Bock, Carlos A. Bacino, James R. Lupski, Christine M. Eng, Arthur L. Beaudet, Chad A. Shaw, Weimin Bi, Pawel Stankiewicz, Chun-hui Tsai, Frank J. Probst, Amber N. Pursley, Seema R. Lalani, Sau Wai Cheung, Joanna Wiszniewska, Patricia Hixson, Ankita Patel, Tomasz Gambin, Sung-Hae L. Kang, Maria Descartes, Fernando Scaglia
Publikováno v:
European Journal of Human Genetics
In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful genomic technologies utilized for the evaluation of developmental delay, multiple congeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bca40312c67a5c4cd642e0f91bcdb2d
https://pubmed.ncbi.nlm.nih.gov/23695279
https://pubmed.ncbi.nlm.nih.gov/23695279
Autor:
Tina M. Cowan, Harvey L. Levy, Yan-Kang Xu, Walter C. Kruckeberg, Richard J. Allen, Won G. Ng, Hans-Georg O. Bock, Miriam G. Blitzer
Publikováno v:
Screening. 2:179-186
Eight infants (two whites and six blacks) with erythrocyte uridine diphosphate galactose-4epimerase (epimerase) deficiency were identified in four newborn screening programs for galactosemia in the United States. The initial biochemical findings in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b5e49a362619f19f8d444b675e03f9b
https://doi.org/10.1016/0925-6164(93)90001-y
https://doi.org/10.1016/0925-6164(93)90001-y
Autor:
Michael A. Springer, Robert H. Hill, Rossanne M. Philen, Hans-Georg O. Bock, Lloyd V. Crawford
Publikováno v:
Pediatrics. 90:630-633
Eosinophilia-myalgia syndrome (EMS) has been observed primarily among adults who take over-the-counter tryptophan preparations for a variety of common † We are saddened to report the untimely death of Dr Lloyd V. Crawford prior to the acceptance of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c545416f017c60575da6bc7b7627b2e
https://doi.org/10.1542/peds.90.4.630
https://doi.org/10.1542/peds.90.4.630
Autor:
Jeffrey M. Chinsky, Laurie Bernstein, Steven Yannicelli, Antonio Velázquez, Marvin E. Miller, Georgianne L. Arnold, Barbara J. Marriage, Patricia Galvin-Parton, Lane Rutledge, Phyllis B. Acosta, Hans-Georg O. Bock, Thaddeus W. Kurczynski, Mark S. Korson, Robert D. Steiner
Publikováno v:
Molecular genetics and metabolism. 80(1-2)
Failure-to-thrive (FTT) has been described in patients with organic acidemias treated with low protein diets.To determine if patients with methylmalonic (MMA) or propionic acidemia (PA) can achieve normal growth and nutrition status.A 6-month multice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f1fedfec1c9d4f8ebb357f10509283
https://pubmed.ncbi.nlm.nih.gov/14567967
https://pubmed.ncbi.nlm.nih.gov/14567967
Publikováno v:
American Journal of Medical Genetics Part A. :3090-3091
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b0848673e83c1bbeb18a650a9003ecc
https://doi.org/10.1002/ajmg.a.32561
https://doi.org/10.1002/ajmg.a.32561
Publikováno v:
Advances in Human Genetics 15 ISBN: 9781461583585
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a67f27e18ce11e9e1a85d6e5d983c812
https://doi.org/10.1007/978-1-4615-8356-1_6
https://doi.org/10.1007/978-1-4615-8356-1_6
Autor:
Susanne M. Gollin, Hans-Georg O. Bock, C. Thomas Caskey, David H. Ledbetter, John M. Opitz, James F. Reynolds
Publikováno v:
American journal of medical genetics. 21(4)
We report on a family with fra(10)(q25) ascertained through a female with multiple minor anomalies and present in her phenotypically normal father and other family members. The site is expressed spontaneously at levels of 9% in lymphocytes, 2% in lym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee2083b59e17ac6525cb305e1b0a704
https://pubmed.ncbi.nlm.nih.gov/4025395
https://pubmed.ncbi.nlm.nih.gov/4025395
Publikováno v:
Nucleic acids research. 11(18)
The nucleotide sequence for human argininosuccinate synthetase cDNA was determined by analysis of six clones isolated from a single experiment. The sequence covered 1623 nucleotides including 76 bases of poly(A) and contained a 1236 nucleotide open r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fe88061df00449c55e4274e24f3161
https://pubmed.ncbi.nlm.nih.gov/6194510
https://pubmed.ncbi.nlm.nih.gov/6194510