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Browse Genetic disorders topic

Diagnosis subtopic

 

Articles

1-44 out of 44 article(s)
Title Author Type Date Words
CLC bio Part of EU Project Aiming to Diagnose Genetic Disorders Using High-Throughput Sequencing. Dec 8, 2009 354
Laryngeal saccular cyst in an infant. Pereira, Kevin D. Case study Jan 1, 2009 770
Free with midwives. Brief article Dec 1, 2008 109
An unusual Brugada syndrome case/nadir gorulen bir Brugada sendromu vakasi. Orem, Cihan; Kiris, Gulhanim; Durmus, Ismet; Kaplan, Sahin; Gedikli, Omer; Baykan, Merih; Gokce, Mus Case study Oct 1, 2008 1269
What's new with newborn screening: newborn screening is the process of testing and screening newborns shortly after birth for certain, potentially dangerous, conditions and/or impairments--conditions that include everything from inborn errors of metabolism and other genetic disorders to hearing impairment. Aug 1, 2008 1540
A parent's view of Ohdo syndrome. FitzZaland, Richard; FitzZaland, Mary Clinical report Aug 1, 2008 1262
Roche and Oxford University: Cooperation to Evaluate 454 Sequencing and NimbleGen High-Density Arrays for Genetic Disease Analysis. Jul 17, 2008 869
Gorham disease of the mandible: Radiographic findings and radiotherapy response. Brief article Jun 1, 2008 38
Family lives life fully in the face of a rare genetic disorder for all three children. Caroff, Maria May 1, 2008 3103
Congenital midline cervical cleft: a report of two cases. Franzese, Christine; Hayes, James D.; Nichols, Kristie Report Mar 1, 2008 2064
Attachment, bonding, and parental stress in CHARGE syndrome. Reda, Nicole M.; Hartshorne, Timothy S. Clinical report Jan 1, 2008 6722
The Brugada syndrome: can we predict the risk? Bayata, Serdar Clinical report Jul 1, 2007 1359
Long-term follow-up of a multiloculated arachnoid cyst of the middle cranial fossa. Kennedy, David W. Jun 1, 2007 2759
Noncompaction of the ventricular myocardium with bicuspid aortic valve/Bikuspid aort kapagi ile gorulen ventrikuler miyokardda "noncompaction". Cavusoglu, Yuksel; Aslan, Recep; Birdane, Alparslan; Ozbabalik, Demet; Ata, Necmi Mar 1, 2007 1638
The 'designer baby' tests that will screen out 200 diseases. Nov 13, 2006 712
Radiological case of the month: C. Frank Gould, MD; Aaron J. Binstock, MD; Justin Q. Ly, MD; Scot E. Campbell, MD; Douglas P. Beall, MD. Gould, C. Frank; Binstock, Aaron J.; Ly, Justin Q.; Campbell, Scot E.; Beall, Douglas P. Nov 1, 2006 1050
Genetic testing: current and future trends. Tsongalis, Gregory J. Oct 1, 2006 1165
Doctors in Pennsylvania Dutch Country Find New Genetic Links to Half Dozen Diseases in Past Year. Oct 10, 2005 1884
Generations word find. Sep 22, 2005 455
A nanoprinter for cheaper diagnostics. Brief Article Jul 9, 2005 222
Imaging can match brain structure to behavior. MacReady, Norra Feb 1, 2005 642
Branchial cleft cyst. Thompson, Lester D.R. Nov 1, 2004 349
Bad gene. Kiser, Lynn Sep 22, 2004 950
Congenital cholesteatoma. House, John W. Sep 1, 2004 340
From peapods to laboratory medicine: molecular diagnostics of inheritable diseases. (Clinical Issues). Kaufman, Harvey W.; Strom, Charles M. Jul 1, 2003 3666
Newborn screening in the 21st century: current status and considerations: a white paper from the Health Promotion and Prevention Committee, American Association on Mental Retardation, June 7, 2002. Nehring, Wendy M. Apr 1, 2003 2462
Laboratory diagnosis of dysfibrinogenemia. Cunningham, Mark T.; Brandt, John T.; Laposata, Michael; Olson, John D. Apr 1, 2002 4170
Male with deterioration of mental status. (Pathologic Quiz Case). Ramalingam, Preetha; Prayson, Richard A. Jan 1, 2002 1592
Congenital Cystic Adenomatoid Malformation of the Lung. Shilo, Konstantin; Tomashefski, Joseph F. Jr,; Liu, Yao Chang Nov 1, 2000 393
Testing for Disorders at Birth. Potvin, Fern R. Aug 1, 2000 1026
Ataxia: Is it Hereditary? Schut, Lawrence J. Dec 22, 1999 1728
FISHing for information on Williams syndrome. Hirsch, David May 1, 1997 684
Chips ahoy: microchips covered with DNA emerge as powerful research tools. Travis, John Cover Story Mar 8, 1997 2197
Prenatal Diagnosis Using Mother's Blood. Jan 1, 1997 409
Mother's blood shows baby's future. Sternberg, Steve Nov 2, 1996 588
Molecular diagnosis of inherited disease. Rohlfs, Elizabeth M.; Silverman, Lawrence M. Sep 1, 1996 3971
Breast cancer: hope for a genetic test. Kaiser, Jocelyn Brief Article Feb 25, 1995 457
UAMS laboratory unravels DNA code, diagnoses genetic disorders and more. Waldon, George Jul 25, 1994 753
Better genetic testing for rare syndrome. Jun 22, 1992 441
Galactosemia. pamphlet Sep 23, 1991 433
Tyrosinemia. pamphlet Sep 23, 1991 485
Gene found for neurofibromatosis. Jul 28, 1990 327
Alpha 1-antitryosin deficiency. pamphlet Nov 28, 1989 504
Computer revealing language of life. May 6, 1989 287

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