books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Personal
Book Requests
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 29; Issue 4
Main
Journal of Medical Genetics
Volume 29; Issue 4
Journal of Medical Genetics
Volume 29; Issue 4
1
Evidence that Rieger syndrome maps to 4q25 or 4q27.
Vaux, C
,
Sheffield, L
,
Keith, C G
,
Voullaire, L
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 855 KB
Your tags:
english, 1992
2
Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.
Ogata, T
,
Hawkins, J R
,
Taylor, A
,
Matsuo, N
,
Hata, J
,
Goodfellow, P N
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 1.31 MB
Your tags:
english, 1992
3
Medical genetics: advances in brief: Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1
Wilkie, A.
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1992
4
Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel
Thakker, N S
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1992
5
Medical genetics: advances in brief: Early bacteriologic, immunologic and clinical courses of young infants with cystic fibrosis identified by neonatal screening
Fitzpatrick, D.
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1992
6
Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
Zerres, K
,
Rietschel, M
,
Rietschel, E
,
Majewski, F
,
Meinecke, P
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 929 KB
Your tags:
english, 1992
7
A strategy for the rapid isolation of new PCR based DNA polymorphisms.
Hoban, P R
,
Santibanez-Koref, M F
,
Heighway, J
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 334 KB
Your tags:
english, 1992
8
Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
Chen, L
,
Pan, X
,
Shen, Y
,
Chen, Z
,
Zhang, Y
,
Chen, R
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 383 KB
Your tags:
english, 1992
9
Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population
Norman, A.
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1992
10
Chromosome Anomalies and Prenatal Development: An Atlas
Donnai, D.
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 210 KB
Your tags:
english, 1992
11
Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.
Moutou, C
,
Junien, C
,
Henry, I
,
Bonaiti-Pellie, C
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 623 KB
Your tags:
english, 1992
12
Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13.
Young, R P
,
Sharp, P A
,
Lynch, J R
,
Faux, J A
,
Lathrop, G M
,
Cookson, W O
,
Hopkin, J M
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 491 KB
Your tags:
english, 1992
13
Genatlas
Harper, P. S
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 223 KB
Your tags:
english, 1992
14
Hypoglossia-hypodactyly syndrome with hydrocephalus.
Lipson, A H
,
Weaver, D D
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 264 KB
Your tags:
english, 1992
15
The orocraniodigital syndrome of Juberg and Hayward.
Verloes, A
,
Le Merrer, M
,
Davin, J C
,
Wittamer, P
,
Abrassart, C
,
Bricteux, G
,
Briard, M L
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 1.47 MB
Your tags:
english, 1992
16
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
Desmaze, C
,
Deleuze, J F
,
Dutrillaux, A M
,
Thomas, G
,
Hadchouel, M
,
Aurias, A
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 621 KB
Your tags:
english, 1992
17
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
Viljoen, D
,
Ramesar, R
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 982 KB
Your tags:
english, 1992
18
Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.
Pound, S E
,
Carothers, A D
,
Pignatelli, P M
,
Macnicol, A M
,
Watson, M L
,
Wright, A F
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 361 KB
Your tags:
english, 1992
19
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
Young, I D
,
Zuccollo, J M
,
Maltby, E L
,
Broderick, N J
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 752 KB
Your tags:
english, 1992
20
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
Tupler, R
,
Maraschio, P
,
Gerardo, A
,
Mainieri, R
,
Lanzi, G
,
Tiepolo, L
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 593 KB
Your tags:
english, 1992
21
Interstitial deletion of the distal long arm of chromosome 4.
Sarda, P
,
Lefort, G
,
Fryns, J P
,
Humeau, C
,
Rieu, D
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 591 KB
Your tags:
english, 1992
22
The Baller-Gerold syndrome.
Van Maldergem, L
,
Verloes, A
,
Lejeune, L
,
Gillerot, Y
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 945 KB
Your tags:
english, 1992
23
Abstracts of the Joint British Medical Genetics meeting organised by the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 September 1991 at the University of Bristol
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 3.63 MB
Your tags:
english, 1992
24
Age at onset and life table risks in genetic counselling for Huntington's disease.
Harper, P S
,
Newcombe, R G
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 600 KB
Your tags:
english, 1992
25
Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).
Coto, E
,
Aguado, S
,
Alvarez, J
,
Menendez Diaz, M J
,
Lopez-Larrea, C
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 594 KB
Your tags:
english, 1992
26
Medical genetics: advances in brief: Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency
Fitzpatrick, D.
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1992
27
Fragile X syndrome: as common as first thought?
Smart, R D
Journal:
Journal of Medical Genetics
Year:
1992
Language:
english
File:
PDF, 277 KB
Your tags:
english, 1992
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×