Volume 50; Issue 2

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Clinical Genetics
Volume 50; Issue 2

Clinical Genetics

Volume 50; Issue 2

1

Multifactorial inheritance of non-syndromic macrocephaly

L. Arbour, G. V. Watters, J. G. Hall, F. C. Fraser

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 522 KB

english, 1996

2

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother

C. Apacik, M. Cohen, M. Jakobeit, B. Schmucker, S. Schuffenhauer, E. Thurn und Taxis, O. Genzel-Boroviczeny, S. Stengel-Rutkowski

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 3.01 MB

english, 1996

3

Midline congenital anomalies: the estimated occurrence among American Indian and Alaska Native infants

Dale A. Coddington, John J. Hisnanick

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 318 KB

english, 1996

4

The molecular characterization of Gaucher disease in South Africa

Bharti Morar, Anthony B. Lane

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 913 KB

english, 1996

5

Medical Ethics:The right not to know—worthy of preservation any longer? An ethical perspective

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 368 KB

english, 1996

6

Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism

Lida Bruni, Barbara Angeletti, Esterina Pascale, Maria Cristina Tozzi, Paola Giammaria, Roberto Verna, Ettore D'Ambrosio

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 317 KB

english, 1996

7

Poland sequence in two siblings suggesting an autosomal inheritance transmission

Amnon Cohen, Silvia Zecca, Alessandra Dassori, Monica Pelegrini, Lorenza Parodi, Cesare Romano

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 444 KB

english, 1996

8

De novo direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration

Dieter Kotzot, Carsten Kriiger, Cordula Braun-Quentin

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 774 KB

english, 1996

9

The evaluation of gonosomal mosaics: lymphocyte interphase nuclei analyzed by FISH

M. Schliephacke, C. I. M. Maier, G. Majlinger, J. Tomiuk, M. Leipoldt, P. Kaiser

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 345 KB

english, 1996

10

Molecular characterization of 21p-variant chromosome

Robert A. Conte, Thomas Mathews, Svetlana M. Kleyman, Ram S. Verma

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 503 KB

english, 1996

11

Short Report on DNA Marker at Candidate Locus : A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)

H. Wiebusch, Sa. Muntoni, H. Funke, F. Lu, U. Seedorf, S. Oberle, U. Schwarzer, G. Assmann

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 148 KB

english, 1996

12

Short Report on DNA Marker at Candidate Locus : A polymorphism in intron 2 of the TP53 gene

Richard A. DiCioccio, M. Steven Piver

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

13

Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene

K. Pack, J. Smith-Ravin PhD, R. K. S. Phillips MS FRCS, S. V. Hodgson BM BCh DM FRCP

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 204 KB

english, 1996

14

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin-Lowry syndrome

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 66 KB

english, 1996