Results : 26-50/113
Authors:
Sheridan, Molly B.
Kato, Takema
Haldeman-Englert, Chad
Reza Jalali, G.
Emanuel, Beverly S.
Citation: B. Sheridan, Molly et al., A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21), American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 209-218
Authors:
Williams, Stephen R.
Aldred, Micheala A.
Der Kaloustian, Vazken M.
Halal, Fahed
Elsea, Sarah H.
Citation: R. Williams, Stephen et al., Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 219-228
Authors:
Mulle, Jennifer Gladys
Dodd, Anne F.
McGrath, John A.
Wolyniec, Paula S.
Warren, Stephen T.
Citation: Mulle, Jennifer Gladys et al., Microdeletions of 3q29 Confer High Risk for Schizophrenia, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 229-236
Authors:
Li, Mingkun
Schönberg, Anna
Schaefer, Michael
Schroeder, Roland
Stoneking, Mark
Citation: Li, Mingkun et al., Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 237-249
Authors:
Martinelli, Simone
De Luca, Alessandro
Stellacci, Emilia
Rossi, Cesare
Tartaglia, Marco
Citation: Martinelli, Simone et al., Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 250-257
Authors:
Dvir, Liron
Srour, Gassoub
Abu-Ras, Rasmi
Miller, Benjamin
Ben-Yosef, Tamar
Citation: Dvir, Liron et al., Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 258-264
Authors:
Brancati, Francesco
Fortugno, Paola
Bottillo, Irene
Lopez, Marc
Dallapiccola, Bruno
Citation: Brancati, Francesco et al., Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 265-273
Authors:
Oji, Vinzenz
Eckl, Katja-Martina
Aufenvenne, Karin
Nätebus, Marc
Hennies, Hans Christian
Citation: Oji, Vinzenz et al., Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 274-281
Authors:
Pierce, Sarah B.
Walsh, Tom
Chisholm, Karen M.
Lee, Ming K.
King, Mary-Claire
Citation: B. Pierce, Sarah et al., Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 282-288
Authors:
Tukel, Turgut
.o.i., Dra.en
Al-Gazali, Lihadh I.
Erazo, Mónica
Desnick, Robert J.
Citation: Tukel, Turgut et al., Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 289-296
Authors:
McEvoy, Brian P.
Lind, Joanne M.
Wang, Eric T.
Moyzis, Robert K.
Wilton, Alan N.
Citation: P. Mcevoy, Brian et al., Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 297-305
Authors:
Shaheen, Ranad
Al-Owain, Mohammed
Sakati, Nadia
Alzayed, Zayed S.
Alkuraya, Fowzan S.
Citation: Shaheen, Ranad et al., FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 306-307
Authors:
Alanay, Yasemin
Krakow, Deborah
Citation: Alanay, Yasemin et Krakow, Deborah, Response to Shaheen et al, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 308-308
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 311-312
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 313-314
Authors:
Fox, Michelle
Citation: Fox, Michelle, A Guide to Genetic Counseling, 2nd Edition, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 315-315
Authors:
Awadalla, Philip
Gauthier, Julie
Myers, Rachel A.
Casals, Ferran
Rouleau, Guy A.
Citation: Awadalla, Philip et al., Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 316-324
Authors:
Wan, Xiang
Yang, Can
Yang, Qiang
Xue, Hong
Yu, Weichuan
Citation: Wan, Xiang et al., BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 325-340
Authors:
Ballantyne, Kaye N.
Goedbloed, Miriam
Fang, Rixun
Schaap, Onno
Kayser, Manfred
Citation: N. Ballantyne, Kaye et al., Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 341-353
Authors:
O'Driscoll, Mary C.
Daly, Sarah B.
Urquhart, Jill E.
Black, Graeme C.M.
Crow, Yanick J.
Citation: C. O'Driscoll, Mary et al., Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 354-364
Authors:
Falace, Antonio
Filipello, Fabia
La Padula, Veronica
Vanni, Nicola
Zara, Federico
Citation: Falace, Antonio et al., TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 365-370
Authors:
Corbett, Mark A.
Bahlo, Melanie
Jolly, Lachlan
Afawi, Zaid
Gecz, Jozef
Citation: A. Corbett, Mark et al., A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 371-375
Authors:
Langmann, Thomas
Di Gioia, Silvio Alessandro
Rau, Isabella
Stöhr, Heidi
Rivolta, Carlo
Citation: Langmann, Thomas et al., Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 376-381
Authors:
Bandah-Rozenfeld, Dikla
Mizrahi-Meissonnier, Liliana
Farhy, Chen
Obolensky, Alexey
Sharon, Dror
Citation: Bandah-rozenfeld, Dikla et al., Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 382-391
Authors:
Belostotsky, Ruth
Seboun, Eric
Idelson Gregory H. ,
Milliner, Dawn S.
Frishberg, Yaacov
Citation: Belostotsky, Ruth et al., Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 392-399