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Publication Date:
July 2000
ISSN:
2191-0367

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International Journal on Disability and Human Development

Official journal of the the National Institute of Child Health and Human Development in Israel

Editor-in-Chief: Merrick, Joav

Editorial Board Member: Brooks, Tony / Carmeli, Eli / Dalton, Arthur J / Davidson, Philip W / Galil, Ahron / Heller, Tamar / Huff, Marlene B. / Janicki, Matthew P. / Kerr, Mike / Levy, Howard B / Lindström, Bengt / Morad, Mohammed / Omar, Hatim A. / Prasher, Vee / Shek, Daniel T.L. / Sher, Leo / Stratakis, Constantine A / Postolache, Teodor T.

4 Issues per year

Increased IMPACT FACTOR 2011: 0.300

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Issues

Ahead of print >

Volume 12 (2013)

Volume 11 (2012)

Volume 10 (2011)

Volume 9 (2010)

Volume 8 (2009)

Volume 7 (2008)

Volume 6 (2007)

Volume 5 (2006)

Volume 4 (2005)

Volume 3 (2003)

Volume 2 (2001)

Volume 1 (2000)

Most Downloaded Articles

  1. Masthead
  2. Cognitive profile of patients with alcoholic Korsakoff's syndrome by Brand , Matthias
  3. A screening battery for the assessment of executive functioning in young and adult individuals with intellectual disability by Sgaramella, Teresa M./ Carrieri, Loredana and Barone, Caterina
  4. Acute alcohol-induced impairment of cognitive functions: Past and present findings by Fillmore , Mark Τ
  5. An exploratory study of patient interventions and nutritional advice for patients with chronic obstructive pulmonary disease, living in the community by Dickinson, Jill

Issue 3 (Jul 2000), pp. 113 - 176

CONTENTS

Page I

Letter from the Editors

Page 113

Prader-Willi and Angelman Syndromes: Diagnostic Approach

Abeliovich , D.

Page 115

Argl83His, a New Mutational "Hot-Spot" in the Growth Hormone Gene

Wajnrajch , M.P. / Gertner , J.M. / Mullis , P.E. / Deladoey , J. / Cogan , J.D. / Lekhakula , S. / Kim , S. / Dannies , P.S. / Saenger , P. / Moshang , T. / Phillips III , J.A. / Leibel , R.L.

Page 125

Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism

Kentrup , H. / Altmüller , J. / Karhausen , S. / Hauffa , Β.P. / Pfaffle , R. / Heimann , G.

Page 137

De novo RET Mutation Positive Multiple Endocrine Neoplasia Type 2B and Hereditary Nonpolyposis Colorectal Cancer Syndrome Occurring in the Same Family: Parent-of-Origin and Mismatch Repair

Hampel , H. / Allen , C.M. / Chernausek , S.D. / Prior , T.W. / Eng , C.

Page 143

Bromocriptine Resistant Prolactinomas and Non-Functioning Pituitary Tumors: Somatic Mutational Analyses of the Dopamine Type 2 Receptor and the MEN1 Gene

Mark , M. / Adams , E.F. / Morelli , A.-M. / Jakobovitz-Picard , O. / Buchfelder , M. / Hofstra , R.M.W. / Mulder , I.Μ. / DeMarco , L. / Brandl , M.L. / Friedman , E.

Page 149

Genetic Studies in Familial Aldosteronism Not Suppressible by Dexamethasone

Fallo , F. / Veglio , F. / Mulatero , P. / Sonino , N. / Pilon , C. / Barzon , L. / Trimarchi , F. / Boscaro , M. / Benvenga , S.

Page 159

Recombination Between the Sodium Channel SCN8A and the Allgrove Syndrome Gene in a Puerto Rican Kindred

Sprunger , L.K. / Meisler , Μ.Η. / Stratakis , C.A.

Page 165

BOOK REVIEWS. CALENDAR

Page 171

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