We think you have liked this presentation. If you wish to download it, please recommend it to your friends in any social system. Share buttons are a little bit lower. Thank you!
Presentation is loading. Please wait.
Published byJillian Mullinix
Modified about 1 year ago
Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer The American Journal of Human Genetics Volume 92, Issue 3, Pages (March 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions Terms and Conditions
ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation Dorien Lugtenberg, Helger G. Yntema,
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout,
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein.
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia Janneke H.M. Schuurs-Hoeijmakers,
Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee,
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome Jacopo Celli, Pascal Duijf, Ben C.J Hamel, Michael Bamshad, Bridget.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling,
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages (March 2007) DOI: /biophysj
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1)
2002 Air Medical Transport Industry Awards Air Medical Journal Volume 22, Issue 2, Pages (March 2003) DOI: /S X(03) Copyright.
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,
A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
The Nuclear Pore Complex Mystery and Anomalous Diffusion in Reversible Gels Thomas Bickel, Robijn Bruinsma Biophysical Journal Volume 83, Issue 6, Pages.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family Frédéric Laumonnier, Frédérique.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome Reinhard Schneppenheim, Michael.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
Endothelial cell seeding reduces thrombogenicity of Dacron grafts in humans Per Örtenwall, MD, PhD *, Hans Wadenvik, MD, PhD **, Jack Kutti, MD, PhD **,
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya, Aslıhan Tolun.
How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu
Genetic Parameters and Trends in the Chilean Multibreed Dairy Cattle Population* M.A. Elzo, A. Jara, N. Barria Journal of Dairy Science Volume 87, Issue.
Analysis of Kinetic Intermediates in Single-Particle Dwell-Time Distributions Daniel L. Floyd, Stephen C. Harrison, Antoine M. van Oijen Biophysical Journal.
Effects of Milk Powders in Milk Chocolate B. Liang, R.W. Hartel Journal of Dairy Science Volume 87, Issue 1, Pages (January 2004) DOI: /jds.S (04)
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Professionalism and the work-life balance Thomas S. Huber, MD, PhD Journal of Vascular Surgery Volume 60, Issue 4, Pages (October 2014) DOI:
© 2017 SlidePlayer.com Inc. All rights reserved.