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Volume 63; Issue 3
Main
American Journal of Medical Genetics
Volume 63; Issue 3
American Journal of Medical Genetics
Volume 63; Issue 3
1
Proband and parent assistance in identifying relatives for cystic fibrosis carrier testing
Sorenson, J. R.
,
Cheuvront, B.
,
Bruning, A.
,
Talton, S.
,
DeVellis, B.
,
Koch, G.
,
Callanan, N.
,
Fernald, G.
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 895 KB
Your tags:
1996
2
A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance
Ceballos-Quintal, José M.
,
Pinto-Escalante, Doris
,
Castillo-Zapata, Ileana
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 203 KB
Your tags:
1996
3
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: Two siblings representing a probably new autosomal recessive entity
Bönnemann, Carsten G.
,
Meinecke, Peter
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 647 KB
Your tags:
1996
4
Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p
Leichtman, Lawrence G.
,
Zackowski, Joleen L.
,
Storto, Patrick D.
,
Newlin, Anna
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 346 KB
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1996
5
Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations
Liu, A. W.
,
Delgado-Escueta, A. V.
,
Gee, M. N.
,
Serratosa, J. M.
,
Zhang, Q. W.
,
Alonso, M. E.
,
Medina, M. T.
,
Cordova, S.
,
Zhao, H. Z.
,
Spellman, J. M.
,
Donnadieu, F. Rubio
,
Peek, J. Ramos
,
Treiman, L
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 896 KB
Your tags:
1996
6
CVS-exposed limb deficiency defects with or without other birth defects: Presentation of six cases born during a period of nine years
Chen, Chih-Ping
,
Liu, Fen-Fen
,
Jan, Sheau-Wen
,
Lin, Shuan-Pei
,
Lan, Chung-Chi
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 662 KB
Your tags:
1996
7
Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome
Fetni, Raouf
,
Krabchi, Kada
,
Messier, Paul-Emil
,
Richer, Claude-Lise
,
Lemieux, Nicole
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 490 KB
Your tags:
1996
8
Identical twin discordance for the Brachmann-de Lange syndrome revisited
Carakushansky, Gerson
,
Aguiar, Marcos B.
,
Gonçalves, Marcia R.
,
Berthier, Clélia O.
,
Kahn, Evelyn
,
Carakushansky, Mauri
,
Pena, Sergio D. J.
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 344 KB
Your tags:
1996
9
A−2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler syndrome kindred
Williams, C. J.
,
Ganguly, A.
,
Considine, E.
,
McCarron, S.
,
Prockop, D. J.
,
Walsh-Vockley, C.
,
Michels, V. V.
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 708 KB
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1996
10
Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
de Albuquerque Coêlho, Katia-Édni F.
,
Egashira, Masayuki
,
Kato, Rumiko
,
Fujimoto, Masahiro
,
Matsumoto, Naomichi
,
Rerkamnuaychoke, Budsaba
,
Abe, Kyohko
,
Harada, Naoki
,
Ohashi, Hirofumi
,
Fukushima, Yosh
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 504 KB
Your tags:
1996
11
EEC syndrome and genitourinary anomalies: An update
Maas, Saskia M.
,
de Jong, Tom P. V. M.
,
Buss, Paul
,
Hennekam, Raoul C. M.
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 737 KB
Your tags:
1996
12
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child
Moerman, Philippe
,
Fryns, Jean-Pierre
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 363 KB
Your tags:
1996
13
Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies
Van den Enden, A.
,
Verschraegen-Spae, M. R.
,
Van Roy, N.
,
Decaluwe, W.
,
De Praeter, C.
,
Speleman, F.
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 327 KB
Your tags:
1996
14
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy
Ionasescu, Victor
,
Ionasescu, Rebecca
,
Searby, Charles
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 558 KB
Your tags:
1996
15
Sex ratios in fetuses and liveborn infants with autosomal aneuploidy
Huether, Carl A.
,
Martin, Rebecca L. M.
,
Stoppelman, Susan M.
,
D'Souza, Sharon
,
Bishop, Jennifer K.
,
Torfs, Claudine P.
,
Lorey, Fred
,
May, Kristin M.
,
Hanna, Julia Sanford
,
Baird, Patricia A.
,
Kelly,
Journal:
American Journal of Medical Genetics
Year:
1996
File:
PDF, 943 KB
Your tags:
1996
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