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
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 97; Issue 5
Main
Human Genetics
Volume 97; Issue 5
Human Genetics
Volume 97; Issue 5
1
Characterization of the human p57KIP2gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis
Tokino, Takashi
,
Urano, Tsutomu
,
Furuhata, Tomohisa
,
Matsushima, Mieko
,
Miyatsu, Takashi
,
Sasaki, Shin
,
Nakamura, Yusuke
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 1.08 MB
Your tags:
english, 1996
2
Genetic deficiencies of the glycogen phosphorylase system
Jan Hendrickx,Patrick J. Willems
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 39 KB
Your tags:
english, 1996
3
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family
Ken Tanigawa,Morad Bensidhoum,Noboru Takamura,Hiroyuki Namba…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 54 KB
Your tags:
english, 1996
4
Assignment of the human ST2 gene to chromosome 2 at q11.2
Shin-ichi Tominaga,Johji Inazawa,Shoji Tsuji
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 163 KB
Your tags:
english, 1996
5
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
Tomonobu Hasegawa,Tsutomu Ogata,Yukihiro Hasegawa,Masataka Honda…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 155 KB
Your tags:
english, 1996
6
Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
Thomas Eggermann,Hartmut Engels,Barbara Moskalonek,Markus M. Nöthen…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 83 KB
Your tags:
english, 1996
7
Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells
Nikolai D. Belyaev,Ann M. Keohane,Bryan M. Turner
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 367 KB
Your tags:
english, 1996
8
Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
W. Friedl,S. Meuschel,C. Lamberti,M. Sengteller,P. Propping…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 108 KB
Your tags:
english, 1996
9
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure
Y. L. Ko,J. J. Chen,J. J. Cheng,P. Kuan,W. P. Lien,T. K. Tang…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 92 KB
Your tags:
english, 1996
10
Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR
H. Maruyama,Kawakami,S. Nakamura
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 69 KB
Your tags:
english, 1996
11
SRY-negative true hermaphrodites and an XX male in two generations of the same family
Ester S. Ramos,Carlos A. Moreira-Filho,Yvone A. M. V. A. Vicente…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 681 KB
Your tags:
english, 1996
12
Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters
Anna Savoia,Adriana Zatteral,Domenico Del Principe,Hans Joenje
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 40 KB
Your tags:
english, 1996
13
Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments
I. A. Glass,M. Passage,L. Bernatowicz,E. C. Salido,T. Mohandas…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 203 KB
Your tags:
english, 1996
14
A novel polymorphism in the coding region of CYBB, the human gp91-phoxgene
Futoshi Kuribayashi,Martin de Boer,Jeanette H. W. Leusen…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 48 KB
Your tags:
english, 1996
15
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia
Jeanette Erdmann,Daphne Shimron-Abarbanell,Marcella Rietschel…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 187 KB
Your tags:
english, 1996
16
The human lanosterol synthase gene maps to chromosome 21q22.3
Michele Young,Haiming Chen,Maria D. Lalioti,Stylianos E. Antonarakis
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 183 KB
Your tags:
english, 1996
17
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas
Lucia Rosaria De Vitis,Andrea Tedde,Francesca Vitelli,Franco Ammannati…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 64 KB
Your tags:
english, 1996
18
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
Lucia Rosaria De Vitis,Andrea Tedde,Francesca Vitelli,Franco Ammannati…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 37 KB
Your tags:
english, 1996
19
Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
Benjamin B. Roa,Frank Greenberg,Preethi Gunaratne,Lisa G. Shaffer…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 3.73 MB
Your tags:
english, 1996
20
Distribution of mosaicism in human placentae
Karen G. Henderson,Tracey E. Shaw,Irene J. Barrett…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 83 KB
Your tags:
english, 1996
21
Human chromosome 1 localization of the gene for a prostaglandin F2α, receptor negative regulatory protein
David O. Orlicky,Rebecca Berry,James M. Sikela
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1996
22
Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations
Olivier Cohen,Christine Cans,Jean Louis Gilardi,Hubert Roth…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 322 KB
Your tags:
english, 1996
23
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine
D. Marez,M. Legrand,N. Sabbagh,J. M. Lo-Guidice,P Boone,F. Broly
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 98 KB
Your tags:
english, 1996
24
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families
Agnès Lezin,Jenny Martial,Géraldine Cancel,Giovanni Stevanin…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 73 KB
Your tags:
english, 1996
25
Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men
Jari H. Stengård,Juha Pekkanen,Christian Ehnholm,Aulikki Nissinen…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 82 KB
Your tags:
english, 1996
26
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease
Ruth Navon,Beth Seifried,Nitza Shoham Gal-On,Menachem Sadeh
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 44 KB
Your tags:
english, 1996
27
A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene
A. Braun,E. Maier,S. Kammerer,A. A. Roscher,B. Müller
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 23 KB
Your tags:
english, 1996
28
Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32
Louise Warnich,Peter N. Meissner,Richard J. Hift,Jan H. Louw…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 27 KB
Your tags:
english, 1996
29
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy
Takeshi Yamada,Takuro Kobayashi
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 100 KB
Your tags:
english, 1996
30
New allele variants of the immunoglobulin switch (Sα) regions
Genoveva Keyeux,J. E. Bernal
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 33 KB
Your tags:
english, 1996
31
A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene
Christoph G. O. Baerwald,Gabriel S. Panayi,Jerry S. Lanchbury
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 267 KB
Your tags:
english, 1996
32
Erratum
B. S. Gathof,M. Sommer,T. Podskarbi,J. Reichardt,A. Braun,U. Gresser…
Journal:
Human Genetics
Year:
1996
File:
PDF, 24 KB
Your tags:
1996
33
Canavan Foundation Postdoctoral Fellowship
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 147 KB
Your tags:
english, 1996
34
Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
Roa, Benjamin B.
,
Greenberg, Frank
,
Gunaratne, Preethi
,
Sauer, Christine M.
,
Lubinsky, Mark S.
,
Kozma, Chahira
,
Meck, Jeanne M.
,
Magenis, R. Ellen
,
Shaffer, Lisa G.
,
Lupski, J. R.
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 394 KB
Your tags:
english, 1996
35
A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene
Baerwald, Christoph G. O.
,
Panayi, Gabriel S.
,
Lanchbury, J. S.
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 66 KB
Your tags:
english, 1996
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
×
×