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Volume 126A; Issue 4

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American Journal of Medical Genetics Part A
Volume 126A; Issue 4

American Journal of Medical Genetics Part A

Volume 126A; Issue 4

1

Contribution of malformations and genetic disorders to mortality in a children's hospital

David A. Stevenson, John C. Carey

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 60 KB

english, 2004

2

Commentary on Robin's a smile, and the need for counseling skills in the clinic

Robert G. Resta, Seymour Kessler

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 33 KB

english, 2004

3

Response to Kessler and Resta's commentary

Nathaniel H. Robin

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 23 KB

english, 2004

4

Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

Ann-Leslie Zaslav, Guy Pierno, Arthur Fougner, Jessy Jacob, Geraldine Shikora, Rehana Kazi, Donna Blumenthal, Fakhry Alexander, Joyce E. Fox

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

5

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

A. Rajab, J. Kunze, Stefan Mundlos

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

6

Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

Krishna K. Yelavarthi, Janice Zunich

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 105 KB

english, 2004

7

Premature chromatid separation (PCS) vs. premature centromere division (PCD)

Tadashi Kajii, Tatsuro Ikeuchi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 35 KB

english, 2004

8

Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait

Tadashi Kajii, Akihiro Asamoto

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 31 KB

english, 2004

9

Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature

Jennifer A. Roggenbuck, Nancy J. Mendelsohn, Beverly Tenenholz, Roger L. Ladda, James M. Fink

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

10

Two new cases of Barraquer–Simons syndrome

A. Ferrarini, D. Milani, M. Bottigelli, G. Cagnoli, Angelo Selicorni

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

11

Does autosomal dominant pseudoxanthoma elasticum exist?

Astrid S. Plomp, Xiaofeng Hu, Paulus T.V.M. de Jong, Arthur A.B. Bergen

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

12

Frequency of neural tube defects and down syndrome in the same sibship: Analysis of the Spanish ongoing case-control study

María Luisa Martínez-Frías, Laura Rodríguez, Fermina López-Grondona, Eva Bermejo, Elvira Rodríguez-Pinilla, Jaime L. Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 36 KB

english, 2004

13

Catalogue of unbalanced chromosome aberrations in man

Dorothy Warburton

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 28 KB

english, 2004

14

The challenge in hidden treasures: A never ending story

Dr. Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 57 KB

english, 2004

15

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

Peter G. Barth, Fredoen Valianpour, Valerie M. Bowen, Jan Lam, Marinus Duran, Frédéric M. Vaz, Ronald J.A. Wanders

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 137 KB

english, 2004

16

Metabolic and molecular basis of peroxisomal disorders: A review

Ronald J.A. Wanders

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 547 KB

english, 2004

17

Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions

Eugen Boltshauser

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 421 KB

english, 2004

18

Integrative classification of morphology and molecular genetics in central nervous system malformations

Harvey B. Sarnat, Laura Flores-Sarnat

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 169 KB

english, 2004

19

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, Johannis B.C. de Klerk, Liesbeth J. Maillette de Buy Wenniger-Prick, Ronald J.C. Admiraal, Hans R. Waterham, Ronald J.A. Wanders, Peter G. Barth

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

20

3D analysis of facial morphology

Peter Hammond, Tim J. Hutton, Judith E. Allanson, Linda E. Campbell, Raoul C.M. Hennekam, Sean Holden, Michael A. Patton, Adam Shaw, I. Karen Temple, Matthew Trotter, Kieran C. Murphy, Robin M. Winter

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 399 KB

english, 2004