Results : 51-75/113
Authors:
Li, Lin
Nakaya, Naoki
Chavali, Venkata R.M.
Ma, Zhiwei
Hejtmancik, J. Fielding
Citation: Li, Lin et al., A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 400-409
Authors:
Fiskerstrand, Torunn
Brahim, Dorra H'mida-Ben
Johansson, Stefan
M'zahem, Abderrahim
Knappskog, M.
Citation: Fiskerstrand, Torunn et al., Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 410-417
Authors:
Gilissen, Christian
H. Arts, Heleen
Hoischen, Alexander
Spruijt, Liesbeth
Brunner, Han G.
Citation: Gilissen, Christian et al., Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 418-423
Authors:
Akahori, Masakazu
Tsunoda, Kazushige
Miyake, Yozo
Fukuda, Yoko
Iwata, Takeshi
Citation: Akahori, Masakazu et al., Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 424-429
Authors:
Panicker, Vijay
Wilson, Scott G.
Walsh, John P.
Richards, J. Brent
Spector, Tim D.
Citation: Panicker, Vijay et al., A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 430-435
Authors:
Au, Audrey C.
Hernandez, Paolo A
Lieber,Ernest
Nadroo, Ali M.
Diaz, George A.
Citation: C. Au, Audrey et al., Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 436-444
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(4), 2010, pp. 447-448
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 449-450
Authors:
Wagner, Jennifer K
Citation: K. Wagner, Jennifer, Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 451-456
Authors:
Pemberton, Trevor J.
Wang, Chaolong
Li, Jun Z.
Rosenberg, Noah A.
Citation: J. Pemberton, Trevor et al., Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 457-464
Authors:
Kim, Hyung-Goo
Ahn, Jang-Won
Kurth, Ingo
Ullmann, Reinhard
Layman, Lawrence C.
Citation: Kim, Hyung-goo et al., WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 465-479
Authors:
Hartmann, Linda
Neveling, Kornelia
Borkens, Stephanie
Schneider, Hildegard
Schaal, Heiner
Citation: Hartmann, Linda et al., Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 480-493
Authors:
Fu, Wenqing
Zhang, Feng
Wang, Yi
Gu, Xun
Jin, Lil
Citation: Fu, Wenqing et al., Identification of Copy Number Variation Hotspots in Human Populations, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 494-504
Authors:
Bashamboo, Anu
Ferraz-de-Souza, Bruno
Lourenço, Diana
Lin, Lin
McElreavey, Ken
Citation: Bashamboo, Anu et al., Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 505-512
Authors:
Rotthier, Annelies
Auer-Grumbach, Michaela
Janssens, Katrien
Baets, Jonathan
Timmerman, Vincent
Citation: Rotthier, Annelies et al., Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 513-522
Authors:
Riazuddin, S. Amer
Shahzadi, Amber
Zeitz, Christina
Ahmed, Zubair M.
Hejtmancik, J. Fielding
Citation: Riazuddin, S. Amer et al., A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 523-531
Authors:
Funari, Vincent A.
Krakow, Deborah
Nevarez, Lisette
Chen, Zugen
Cohn, Daniel H.
Citation: A. Funari, Vincent et al., BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 532-537
Authors:
Agamy, Orly
Zeev, Bruria Ben
Lev, Dorit
Marcus, Barak
Birk, Ohad S.
Citation: Agamy, Orly et al., Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 538-544
Authors:
Jee, Sun Ha
Woong Sull, Jae
Lee, Jong-Eun
Shin, Chol
Beaty, Terri H.
Citation: Jee, Sun Ha et al., Adiponectin Concentrations: A Genome-wide Association Study, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 545-552
Authors:
Anastasio, Natascia
Ben-Omran, Tawfeg
Teebi, Ahmad
Ha, Kevin C.H.
Jerome-Majewska,Loydie A.
Citation: Anastasio, Natascia et al., Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 553-559
Authors:
McLaughlin, Heather M.
Sakaguchi, Reiko
Liu, Cuiping
Igarashi, Takao
Antonellis, Anthony
Citation: M. Mclaughlin, Heather et al., Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 560-566
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(5), 2010, pp. 575-576
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 577-579
Authors:
Keats, Bronya J.B.
Hassold, Terry J.
Citation: Keats, Bronya J.b et J. Hassold, Terry, Recollections from 60 ASHG Meetings, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 580-592
Authors:
Bakalkin, Georgy
Watanabe, Hiroyuki
Jezierska, Justyna
Depoorter,Cloë
Verbeek, Dineke S.
Citation: Bakalkin, Georgy et al., Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 593-603