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 22; Issue 2
Main
Human Mutation
Volume 22; Issue 2
Human Mutation
Volume 22; Issue 2
1
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals
Joni L. Rutter
,
Amelia M. Smith
,
Michael R. Dávila
,
Alice J. Sigurdson
,
Ruthann M. Giusti
,
Marbin A. Pineda
,
Michele M. Doody
,
Margaret A. Tucker
,
Mark H. Greene
,
Jinghui Zhang
,
Jeffery P. Struewing
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 305 KB
Your tags:
english, 2003
2
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij
Xiaohua Wu
,
Jeffrey S. Rush
,
Denise Karaoglu
,
Donna Krasnewich
,
Mark S. Lubinsky
,
Charles J. Waechter
,
Reid Gilmore
,
Hudson H. Freeze
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 186 KB
Your tags:
english, 2003
3
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
Michael Hunter
,
Rafaëlle Bernard
,
Elizabeth Freitas
,
Amandine Boyer
,
Bharti Morar
,
Ian J. Martins
,
Ivailo Tournev
,
Albena Jordanova
,
Velina Guergelcheva
,
Boryana Ishpekova
,
Ivo Kremensky
,
Garth Nichol
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2003
4
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique
Bethan E. Hoskins
,
Anita Thorn
,
Peter J. Scambler
,
Philip L. Beales
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 180 KB
Your tags:
english, 2003
5
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome
E. Schollen
,
E. Smeets
,
E. Deflem
,
J.P. Fryns
,
G. Matthijs
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 162 KB
Your tags:
english, 2003
6
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
Gabriel Miltenberger-Miltenyi
,
Franco Laccone
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 188 KB
Your tags:
english, 2003
7
Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer
Vincent W.S. Liu
,
Yue Wang
,
Hui-Juan Yang
,
Percy C.K. Tsang
,
Tong-Yow Ng
,
Ling-Chui Wong
,
Phillip Nagley
,
Hextan Y.S. Ngan
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 86 KB
Your tags:
english, 2003
8
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
Ivon Cuscó
,
Eva López
,
Carolina Soler-Botija
,
María Jesús Barceló
,
Montserrat Baiget
,
Eduardo F. Tizzano
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 232 KB
Your tags:
english, 2003
9
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle
Gert Van Goethem
,
Ann Löfgren
,
Bart Dermaut
,
Chantal Ceuterick
,
Jean-Jacques Martin
,
Christine Van Broeckhoven
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 73 KB
Your tags:
english, 2003
10
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip
Yoichi Matsubara
,
Shigeo Kure
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 328 KB
Your tags:
english, 2003
11
Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping
Cheryl A. Telmer
,
Jiyan An
,
David E. Malehorn
,
Xuemei Zeng
,
Susanne M. Gollin
,
Chandramohan S. Ishwad
,
Jonathan W. Jarvik
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2003
12
Detection of mitochondrial DNA mutations in gestational trophoblastic disease
Pui Man Chiu
,
Vincent W.S. Liu
,
Hextan Y.S. Ngan
,
Ui Soon Khoo
,
Annie N.Y. Cheung
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 188 KB
Your tags:
english, 2003
13
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease
Guido Fitze
,
Mandy Schierz
,
Eberhard Kuhlisch
,
Matthias Schreiber
,
Andreas Ziegler
,
Dietmar Roesner
,
Hans K. Schackert
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 46 KB
Your tags:
english, 2003
14
Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore
Ann S.G. Lee
,
G.H. Ho
,
P.C. Oh
,
C. Balram
,
L.L. Ooi
,
D.T.H. Lim
,
C.Y. Wong
,
G.S. Hong
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2003
15
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia
A.J. Whitfield
,
A.D. Marais
,
K. Robertson
,
P.H.R. Barrett
,
F.M. van Bockxmeer
,
J.R. Burnett
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2003
16
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy
L. Stuppia
,
P. Di Fulvio
,
G. Aceto
,
S. Pintor
,
S. Veschi
,
V. Gatta
,
A. Colosimo
,
E. Cianchetti
,
A. Cama
,
R. Mariani-Costantini
,
P. Battista
,
G. Palka
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2003
17
Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation
Rahma Melki
,
Ahmed Belmouden
,
Antoine Brézin
,
Henri-Jean Garchon
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 217 KB
Your tags:
english, 2003
18
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients
Paola Origone
,
Carlo Bellini
,
Debora Sambarino
,
Barbara Banelli
,
Guido Morcaldi
,
Carmen La Rosa
,
Franco Stanzial
,
Claudio Castellan
,
Domenico A. Coviello
,
Cecilia Garrè
,
Eugenio Bonioli
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 154 KB
Your tags:
english, 2003
19
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria
Barbara Günther
,
Andrea Steiner
,
Doris Nekahm-Heis
,
Klaus Albegger
,
Patrick Zorowka
,
Gerd Utermann
,
Andreas Janecke
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 26 KB
Your tags:
english, 2003
20
Polymorphisms in fatty acid-binding protein-3 (FABP3) – putative association with type 2 diabetes mellitus
Hyoung Doo Shin
,
Lyoung Hyo Kim
,
Byung Lae Park
,
Hye Seung Jung
,
Young Min Cho
,
Min Kyong Moon
,
Hong Kyu Lee
,
Kyong Soo Park
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2003
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
×
×