Journal of Medical Genetics


ISSN: 0022-2593        年代:1989
当前卷期:Volume 26  issue 11     [ 查看所有卷期 ]

年代:1989
 
     Volume 26  issue 1   
     Volume 26  issue 2   
     Volume 26  issue 3   
     Volume 26  issue 4   
     Volume 26  issue 5   
     Volume 26  issue 6   
     Volume 26  issue 7   
     Volume 26  issue 8   
     Volume 26  issue 9   
     Volume 26  issue 10   
     Volume 26  issue 11
     Volume 26  issue 12   
1. Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  673-675

R GSnell,   L PLazarou,   SYoungman,   O WQuarrell,   J JWasmuth,   D JShaw,   P SHarper,  

Preview   |   PDF (375KB)

2. Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  676-681

JTheilmann,   SKanani,   RShiang,   CRobbins,   OQuarrell,   MHuggins,   AHedrick,   BWeber,   CCollins,   J JWasmuth,  

Preview   |   PDF (860KB)

3. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  682-693

SHodgson,   KHart,   SAbbs,   JHeckmatt,   ERodillo,   MBobrow,   VDubowitz,  

Preview   |   PDF (1603KB)

4. Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  694-703

L Ial-Gazali,   R JArthur,   J TLamb,   H MHammer,   T PCoker,   P NHirschmann,   JGibbs,   R FMueller,  

Preview   |   PDF (2091KB)

5. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  704-711

S MHuson,   D ACompston,   PClark,   P SHarper,  

Preview   |   PDF (1158KB)

6. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  712-721

S MHuson,   D ACompston,   P SHarper,  

Preview   |   PDF (1615KB)

7. Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  722-724

J PFryns,  

Preview   |   PDF (670KB)

8. Abnormal chromosome complement resulting from a familial inversion of chromosome 2.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  725-729

SRichter,   BLockwood,   DLockwood,   JAllanson,  

Preview   |   PDF (1069KB)

9. Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  729-730

L ABrueton,   J CBarber,   S MHuson,   R MWinter,  

Preview   |   PDF (340KB)

10. Pituitary function studies in a case of mild Hunter's syndrome (MPS IIB).
  Journal of Medical Genetics,   Volume  26,   Issue  11,   1989,   Page  731-732

JNelson,   DCarson,  

Preview   |   PDF (332KB)

首页 上一页 下一页 尾页 第1页 共12条