Volume 79; Issue 5

American Journal of Medical Genetics

Volume 79; Issue 5

1

First African-American child with juvenile neuronal ceroid lipofuscinosis

?nan, Cigdem, Wong, David, Wisniewski, Krystina E., Rose, Arthur L., Musarella, Maria A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

2

Hand development in trisomy 21

Kjaer, Mette S., Keeling, Jean W., Andersen, Erik, Hansen, Birgit Fischer, Kjaer, Inger

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 187 KB

english, 1998

3

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings

Kantaputra, Piranit N., Pruksachatkunakorn, Chulabhorn, Vanittanakom, Pramote

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 141 KB

english, 1998

4

Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

Dutly, Fabrizio, Baumer, Alessandra, Kayserili, H�lya, Y�ksel-Apak, Memnune, Zerova, Tatjana, Hebisch, Gundula, Schinzel, Albert

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 147 KB

english, 1998

5

Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus

Kugler, Steven L., Stenroos, E. Scot, Mandelbaum, David E., Lehner, Thomas, McKoy, Vershon V., Prossick, Trisha, Sasvari, Jennifer, Swannick, Krystine, Katz, Jordan, Johnson, William G.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

6

Three cases of mosaicism for balanced reciprocal translocations

Leegte, Beike, Sikkema-Raddatz, Birgit, Hordijk, Roel, Bouman, Katelijne, van Essen, Ton, Castedo, Sergio, de Jong, Bauke

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 96 KB

english, 1998

7

Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature

Shaffer, Lisa G., McCaskill, Christopher, Adkins, Kenneth, Hassold, Terry J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

8

Methylmalonic aciduria (cblF): Case report and response to therapy

Waggoner, D.J., Ueda, K., Mantia, C., Dowton, S.B.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

9

International nomenclature and classification of the osteochondrodysplasias (1997)

Waggoner, D.J., Ueda, K., Mantia, C., Dowton, S.B.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

10

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Babovic-Vuksanovic, Dusica, Snow, Karen, Patterson, Marc C., Michels, Virginia V.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 173 KB

english, 1998

11

Hearing loss due to the mitochondrial A1555G mutation in Italian families

Casano, Rosaria A.M.S., Bykhovskaya, Yelena, Johnson, David F., Hamon, Melanie, Torricelli, Francesca, Bigozzi, Minna, Fischel-Ghodsian, Nathan

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 122 KB

english, 1998

12

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

Bejjani, Bassem A., Oberg, Kerby C., Wilkins, Isabelle, Moise, Alicia, Langston, Claire, Superti-Furga, Andrea, Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

13

Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

Bartolo, Claire, Mendell, Jerry R., Prior, Thomas W.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 143 KB

english, 1998

14

Further evidence of autosomal dominant inheritance of the nonsyndromal anorectal malformations

Robb, Laura, Teebi, Ahmad S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

15

Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I

Suzumura, Hiroshi, Kano, Ken-ichi, Nishimura, Gen

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 178 KB

english, 1998

16

Confounding factors in the diagnosis of Fanconi anaemia

Joenje, Hans, Arwert, Fr�, Kwee, Mei Lan, Madan, Kamlesh, Hoehn, Holger

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 33 KB

english, 1998

17

Reply to the letter of Joenje et al. titled ?confounding factors in the diagnosis of Fanconi anaemia.?

Quarrell, Oliver W.J., Maltby, Edna L., Harrison, Christine J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

18

Seven new cases of cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

Bawle, Erawati V., Conard, Joan, Van Dyke, Daniel L., Czarnecki, Paula, Driscoll, Deborah A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 429 KB

english, 1998

19

Diagnostic criteria for neuromuscular disorders

Flanigan, Kevin M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

20

Dystrophin: Gene, protein, and cell biology

Flanigan, Kevin M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 21 KB

english, 1998

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@1delivery.pm

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