Holt‐Oram syndrome: Is there a “face”? (English)
- New search for: Allanson, Judith E.
- New search for: Newbury‐Ecob, Ruth A.
- New search for: Allanson, Judith E.
- New search for: Newbury‐Ecob, Ruth A.
In:
American Journal of Medical Genetics Part A
;
118A
, 4
;
314-318
;
2003
- Article (Journal) / Electronic Resource
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Title:Holt‐Oram syndrome: Is there a “face”?
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Contributors:Allanson, Judith E. ( author ) / Newbury‐Ecob, Ruth A. ( author )
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Published in:American Journal of Medical Genetics Part A ; 118A, 4 ; 314-318
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Publisher:
- New search for: Wiley Subscription Services, Inc., A Wiley Company
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Publication date:2003-05-01
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Size:5 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 118A, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 305
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Identification of the first non‐Jewish mutation in familial DysautonomiaLeyne, Maire / Mull, James / Gill, Sandra P. / Cuajungco, Math P. / Oddoux, Carole / Blumenfeld, Anat / Maayan, Channa / Gusella, James F. / Axelrod, Felicia B. / Slaugenhaupt, Susan A. et al. | 2003
- 309
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Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastomaOrigone, Paola / Defferrari, Raffaella / Mazzocco, Katia / Cunsolo, Crocifissa Lo / Bernardi, Bruno De / Tonini, Gian Paolo et al. | 2003
- 314
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Holt‐Oram syndrome: Is there a “face”?Allanson, Judith E. / Newbury‐Ecob, Ruth A. et al. | 2003
- 319
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Prenatal detection of rare chromosomal autosomal abnormalities in EuropeBaena, N. / De Vigan, C. / Cariati, E. / Clementi, M. / Stoll, C. / Caballin, M.R. / Guitart, M. et al. | 2003
- 328
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Mutation analysis impact on the genetic counseling of sporadic hemophilia B familiesBicocchi, Maria Patrizia / Pasino, Mirella / Bottini, Federico / Lanza, Tiziana / Mori, Pier Giorgio / Acquila, Maura et al. | 2003
- 332
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Natural history of rhizomelic chondrodysplasia punctataWhite, Amy L. / Modaff, Peggy / Holland‐Morris, Francesca / Pauli, Richard M. et al. | 2003
- 343
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Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardationKorniszewski, Lech / Arbuckle, Susan / Kozlowski, Kazimierz et al. | 2003
- 350
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Deletion 12q: A second patient with 12q24.31q24.32 deletionPlotner, Pamela L. / Smith, Janice L. / Northrup, Hope et al. | 2003
- 353
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Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypesLópez‐Pajares, I. / Delicado, A. / Lapunzina, P. / Mori, M.A. / de Torres, M.L. / Aso, S. / Garcia Sanchez, P. et al. | 2003
- 358
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Brachmann–de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative bdls gene mutation?Zankl, Andreas / Rampa, Antonio / Schinzel, Albert et al. | 2003
- 362
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Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomiaDi Rocco, M. / Stella, G. / Bruno, C. / Doria Lamba, L. / Bado, M. / Superti‐Furga, A. et al. | 2003
- 369
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Oral‐facial‐digital syndrome gabrielli type: Second reportObregón, Maria Gabriela / Barreiro, Cristina Zulema et al. | 2003
- 372
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Portal hypertension in Williams syndrome: Report of two patientsCasanelles, Miguel Del Campo / Gil‐Fernández, Juan José / Casero, Luis F. Magano / Bengoechea, Manuel García / Serrano, Rosario / Rañada, José María Fernández / Jurado, Luis Alberto Pérez et al. | 2003
- 377
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A female case of Sedaghatian type spondylometaphyseal dysplasiaFoulds, Nicola / Fairhurst, Jo / Temple, I. Karen / Cade, Steven / Groves, Charlotte / Lancaster, Tessa et al. | 2003
- 382
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Late‐Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeVan Hove, Johan L.K. / Wevers, Ron A. / Van Cleemput, Johan / Moerman, Philippe / Sciot, Raf / Matthijs, Gert / Schollen, Els / de Jong, Jan G.N. / Carey, William F. / Muller, Viv et al. | 2003
- 388
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Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndromeSilengo, Margherita / Ferrero, Giovanni Battista / Tornetta, Lorella / Cortese, Maria Grazia / Canavese, Ferdinando / D'Alonzo, Gabriella / Papalia, Francesco et al. | 2003
- 391
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Aural atresia and microtia in Kabuki syndromeKokitsu‐Nakata, Nancy Mizue / Guion‐Almeida, Maria Leine et al. | 2003
- 394
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Rhomboid shaped tibia and hypoplastic fibula: A variant of Nievergelt syndromeMonga, P. / Swamy, M.K.S. / Rao, K.S. et al. | 2003
- 398
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A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: Another case of the Gurrieri syndromeNakane, Takaya / Tandou, Tomoko / Mitsui, Yumiko / Hayashibe, Hidemasa / Aihara, Masao / Nakazawa, Shinpei et al. | 2003
- 402
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High frequency of the Ala481Thr mutation of the P gene in the Japanese populationSuzuki, Tamio / Miyamura, Yoshinori / Tomita, Yasushi et al. | 2003
- 404
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A smileRobin, Nathaniel H. et al. | 2003