The Gale Genetic Disorders of encyclopedia vol 2 - part 1 pps
The Gale Genetic Disorders of encyclopedia vol 2 - part 1 pps
... MI 4833 1- 3 535 All rights reserved including the right of reproduction in whole or in part in any form. ISBN 0-7 87 6-5 6 1 2- 7 (set) 0-7 87 6-5 61 3-5 (Vol. 1) 0-7 87 6-5 61 4-3 (Vol. 2) Printed in the United ... Cheshire, CW 1- 6 UR. UK 12 7 025 022 1. Fax: 087 0-7 70 0- 327 . Ͻhttp://www.climb.org.ukϾ. International Society for Mannosidosis and...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 3 pps
... malformations and/or dys- functions of the ears (-oto-), palate (-palato-), fingers and toes (-digito-), skull (-cranio-), mouth (-oro-), face (- facio-), and bones (-osseo-). Some of the characteristics common ... PO Box 11 0 82, Chattanooga, TN 374 01. ( 423 ) 26 6 -1 6 32 or (800) 3 3 2- 23 73. faces@faces-cranio.org. Ͻhttp://www.faces-cranio .org/Ͼ. National Organization...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 7 ppsx
... Inc. 12 9 -0 9 26 th Ave. #20 3, Flushing, NY 11 354. (800) 522 - 722 2 or ( 718 ) 3 21 -2 8 73. Ͻhttp://www.thalassemia.orgϾ. March of Dimes Birth Defects Foundation. 12 7 5 Mamaro- neck Ave., White Plains, NY 10 605. ... (19 69): 41 1- 4 39. ORGANIZATIONS T.A.R.S.A. Thrombocytopenia Abset Radius Syndrome Association. 21 2 Sherwood Drive, Linwood, NJ 08 324 - 7658. (609)...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 10 pps
... 1: 149 15 3 characteristics, 2: 11 19 classification, 1: 150 15 3 genetics, 2: 1 12 1 1 12 2 prevalence, 2: 1 12 1 symptoms, 2: 1 12 3 1 12 4 treatment, 2: 1 12 5 Betalipoproteins, 1: 5 Bi-Pap (Biphasic Positive Airway Pressure), 2: 10 83 Bickel, ... 1: 40– 41, 41 Choroidal coloboma, 1 :25 5 25 6 Choroideremia, 1 :22 9 23 1 Chromosomal abnormalities, 1 :23...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 2 doc
... location of the hMLH1 gene is on chromosome 3 at 3p 21. 3, while the location of hMSH2 is chromosome 2, 2p 2 2- p 21. Genetic testing for hMLH1 and hMSH2 is available but the detection rate for mis- match ... (December 19 99): 27 2 -2 7 4. ORGANIZATIONS National Organization for Rare Disorders (NORD). PO Box 8 923 , New Fairfield, CT 068 1 2- 8 923 . (20 3) 74 6-6 518 o...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 6 pot
... Joseph’s Hospital, 7 620 York Rd., Towson, MD 21 204. ( 410 ) 33 7- 12 5 0. National Eye Institute. 31 Center Drive, Bldg. 31, Room6A 32, MSC 25 10 , Bethseda, MD 20 8 9 2- 2 510 . (3 01) 49 6- 524 8. 20 20@nei.nih.gov. ... 068 1 2- 8 923 . (20 3) 74 6-6 518 or (800) 99 9-6 673. Fax: (20 3) 74 6-6 4 81. Ͻhttp://www .rarediseases.orgϾ. Scleroderma Foundation. 12 Kent Way...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 8 docx
... Inc. 3 417 Volta Place NW, Washington, DC 20 007 -2 7 78. (800) 4 3 2- 7543. Ͻhttp://www.agbell.orgϾ. FACES: The National Craniofacial Association. PO Box 11 0 82, Chattanooga, TN 374 01. ( 423 ) 26 6 -1 6 32 or ... Hypopigmentation. 15 30 Locust St. #29 , Philadelphia, PA 19 1 0 2- 4 415 . ( 21 5) 545 -2 3 22 or (800) 473 -2 3 10 . Ͻhttp://www.albinism .orgϾ. Research Regi...
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The Gale Genetic Disorders of encyclopedia vol 2 - part 9 ppt
... spleen 12 2 6 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Zellweger syndrome GALE ENCYCLOPEDIA OF GENETIC DISORDERS 12 3 9 Chromosome Map 12 13 11 11 1 p q 21 25 26 13 14 15 12 22 23 24 1 2 Chromosome 15 FBN1: ... Pituitary dwarfism p q 25 27 28 29 24 26 23 22 21 2 FBS: Faconi-Bickel syndrome ETM1: Essential tremor GM1: gangliosidosis Ch...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 2 docx
... specific region of the chro- mosome 15 inherited from the mother. This region is designated 15 q1 1- 1 3 (bands 11 through 13 on the long arm of chromosome 15 ). The fact that AS occurs only when there are ... Unknown 2. Etiology: UBE3A mutation, Imprinting mutation or Unknown 2 d.71y88y d.83y 78y 61y 36y 23 y 2y 18 y 12 y 54y 49y 46y 39y d.71y d.88y d.62y 75y 48y60y63...
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The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx
... Molecular Genetics and Metabolism (July 20 00): 1 6 2- 9. ORGANIZATIONS Acid Maltase Deficiency Association (AMDA). PO Box 70 024 8, San Antonio, TX 7 827 0- 024 8. ( 21 0) 49 4-6 14 4 or ( 21 0) 49 0-7 16 1. Fax: ( 21 0) ... 49 0-7 16 1. Fax: ( 21 0) 49 0-7 16 1 or 21 0-4 9 7-3 810 . Ͻhttp://www.amda-pompe.orgϾ. Association for Glycogen Storage Disease (United Kingdo...
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