Volume 85; Issue 1

American Journal of Medical Genetics

Volume 85; Issue 1

1

Marina Cammarata 1946-1998

Giuffr�, Liborio, Neri, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

2

Tibial agenesis, femoral duplication, and caudal midline anomalies

Evans, Jane A., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 505 KB

english, 1999

3

True hermaphroditism with partial duplication of chromosome 22 and withoutSRY

Aleck, Kyrieckos A., Argueso, Luis, Stone, John, Hackel, Joseph G., Erickson, Robert P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

4

Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population

Chagnon, Pierre, Gee, Mark, Filion, Mario, Robitaille, Yves, Belouchi, Majid, Gauvreau, Denis

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 436 KB

english, 1999

5

Oesophageal atresia, related malformations, and medical problems: A family study

Brown, Andrea K., Roddam, Andrew W., Spitz, Lewis, Ward, Simon J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

6

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

Patel, Millan S., Callahan, John W., Zhang, Sunqu, Chan, Alicia K.J., Unger, Sheila, Levin, Alex V., Skomorowski, Marie-Anne, Feigenbaum, Annette S., O'Brien, Karel, Hellmann, Jonathan, Ryan, Greg, Ve

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 495 KB

english, 1999

7

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement

Diaz, G.A., Gelb, B.D., Ali, F., Sakati, N., Sanjad, S., Meyer, B.F., Kambouris, M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

8

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop

Huie, M.L., Kasper, J.S., Arn, P.H., Greenberg, C.R., Hirschhorn, R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

9

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

Bellus, Gary A., Bamshad, Michael J., Przylepa, Kelly A., Dorst, John, Lee, Roland R., Hurko, Orest, Jabs, Ethylin W., Curry, Cynthia J.R., Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Fra

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 843 KB

english, 1999

10

Investigation of maternal blood enriched for fetal cells: Role in screening and diagnosis of fetal trisomies

Al-Mufti, Raghad, Hambley, Henry, Farzaneh, Farzin, Nicolaides, Kypros H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.42 MB

english, 1999

11

Mulibrey nanism and Wilms tumor

Seemanov�, Eva, Bartsch, Oliver

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 127 KB

english, 1999

12

Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

Corona-Rivera, J. Rom�n, Corona-Rivera, Enrique, Corona-Rivera, Alfredo, Quiles-Corona, Moises, Velez-G�mez, Ezequiel, Arana-Guti�rrez, Marco A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

13

Follow-up of an adult with Keutel syndrome

Devriendt, Koen, Holvoet, Maureen, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 109 KB

english, 1999

14

Maternal vitamin use, infant C677T mutation in MTHFR, and isolated cleft palate risk

Shaw, Gary M., Todoroff, Karen, Finnell, Richard H., Rozen, Rima, Lammer, Edward J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 35 KB

english, 1999

15

Rare sex chromosome aneuploidies in humans: Report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes

Cammarata, Marina, Di Simone, Paola, Graziano, Luciano, Giuffr�, Mario, Corsello, Giovanni, Garofalo, Giovanna

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

16

Radiographic documentation does not permit the diagnosis of MNS

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 22 KB

english, 1999

17

Reply to letter to the editor by Kozlowski??Radiographic documentation does not permit the diagnosis of MNS?

Robertson, Stephen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 23 KB

english, 1999

18

Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

Takacs, Istvan, Cooper, Heather, Weaver, David D., Econs, Michael J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

19

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

Digilio, Maria Cristina, Marino, Bruno, Bevilacqua, Maurizio, Musolino, Anna Maria, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 33 KB

english, 1999

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски