Volume 87; Issue 3

American Journal of Medical Genetics

Volume 87; Issue 3

1

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

Driggers, Rita W., Macri, Charles J., Greenwald, Jeffrey, Carpenter, David, Avallone, John, Howard-Peebles, Patricia N., Levin, Sondra W.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

2

Use of interphase fluorescence in situ hybridization in third trimester fetuses with anomalies and growth retardation

Aviram-Goldring, A., Daniely, M., Dorf, H., Chaki, R., Goldman, B., Barkai, G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 946 KB

english, 1999

3

Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome

Gofflot, Fran�oise, Kolf-Clauw, Martine, Clotman, Frederic, Roux, Charles, Picard, Jacques J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.65 MB

english, 1999

4

Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting

Ostroverkhova, Nadezhda V., Nazarenko, Sergey A., Rubtsov, Nikolay B., Nazarenko, Ludmila P., Bunina, Elena N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 259 KB

english, 1999

5

New frameshift mutation in the 5?-reductase type 2 gene in a Brazilian patient with 5?-reductase deficiency

Ferraz, L�cio F�bio Caldas, Mathias Baptista, Maria Teresa, Maciel-Guerra, Andr�a Trevas, J�nior, Gil Guerra, Hackel, Christine

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.30 MB

english, 1999

6

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus

Huggins, Marlene J., Mernagh, John R., Steele, Leslie, Smith, John R., Nowaczyk, Ma?gorzata J. M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

7

Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases

Bernard, L.E., Pe�aherrera, M.S., Van Allen, M.I., Wang, M.S., Yong, S-L., Gareis, F., Langlois, S., Robinson, W.P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

8

New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: Report on four Brazilian patients

Guion-Almeida, M. L., Richieri-Costa, A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 718 KB

english, 1999

9

Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population

Gy�r�s, P�ter, Moln�r, J�nos, Melegh, B�la, T�th, G�bor, Morava, �va, Kosztol�nyi, Gy�rgy, M�hes, K�roly

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

10

Frontonasal dysostosis in two successive generations

Nevin, Norman C., Leonard, Alan G., Jones, Barry

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 217 KB

english, 1999

11

Pachygyria/hypogenitalism: A monogenic syndrome

Pradhan, M., Phadke, Shubha R., Jain, S., Agarwal, S. S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

12

B�rjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation

Kubota, Takeo, Oga, Satoko, Ohashi, Hirofumi, Iwamoto, Yasuhiko, Fukushima, Yoshimitsu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 263 KB

english, 1999

13

Two sisters with Toriello-Carey syndrome

Chinen, Yasutsugu, Tohma, Takaya, Izumikawa, Yoshinori, Taketomi, Hirohisa, Iha, Tetsu, Ohta, Takao, Naritomi, Kenji

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 119 KB

english, 1999

14

Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte

Roberts, Richard M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

15

Choledochal cyst in Simpson-Golabi-Behmel syndrome

Kim, Sunghoon, Idowu, Olijire, Chen, Emily

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 184 KB

english, 1999

16

Toriello-Carey syndrome with endocardial fibroelastosis

Ohta, Hidenobu, Masuno, Mitsuo, Kimura, Junko, Imaizumi, Kiyoshi, Kuroki, Yoshikazu, Yasui, Seiyoh, Aida, Noriko, Tanaka, Yukichi

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 86 KB

english, 1999

17

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease

Rady, Peter L., Vargas, Trini, Tyring, Stephen K., Matalon, Reuben, Langenbeck, Ulrich

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

18

Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

Silengo, Margherita, Battistoni, Giulia, Spada, Marco

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 101 KB

english, 1999

19

Caution: Telomere crossing

Shaffer, Lisa G., Kashork, Catherine D., Bacino, Carlos A., Benke, Paul J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.46 MB

english, 1999

20

Die Werdende Form. Eine Geschichte der Kausalen Form. Acta Biohistorica. Schriften aus dem Museum und Forschungsarchiv f�r die Geschichte der Biologie, by Reinhard Mocek

Brauckmann, Sabine

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 65 KB

english, 1999

21

Instant Notes in Genetics, by P.C. Winter, G.I. Hickey, and H.L. Fletcher

Petty, Elizabeth M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 32 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