Results : 26-50/189
Authors:
Kobayashi, Hatasu
Abe, Koji
Matsuura, Tohru
Ikeda, Yoshio
Citation: Kobayashi, Hatasu et al., Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 121-130
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 , 88(2), 2011, pp. 123-124
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 125-126
Authors:
Borck, Guntram
Rehman, Atteeq Ur
Lee, Kwanghyuk
Pogoda, Hans-Martin
Kubisch, Christian
Citation: Borck, Guntram et al., Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 127-137
Authors:
Kullo, Iftikhar J.
Ding, Keyue
Shameer, Khader
McCarty, Catherine A.
Citation: J. Kullo, Iftikhar et al., Complement Receptor 1 Gene Variants Are Associated with Erythrocyte Sedimentation Rate, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 131-138
Authors:
Tao, Hirotaka
Manak, J. Robert
Sowers, Levi
Mei, Xue
Bassuk, Alexander G.
Citation: Tao, Hirotaka et al., Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 138-149
Authors:
Ozaltin, Fatih
Ibsirlioglu, Tulin
Taskiran, Ekim Z.
Baydar, Ertoy
Citation: Ozaltin, Fatih et al., Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 139-147
Authors:
Hanson, Dan
Murray, Philip G.
O'Sullivan, James
Urquhart,Jill
Citation: Hanson, Dan et al., Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 148-153
Authors:
Ghassibe-Sabbagh, Michella
Desmyter, Laurence
Langenberg, Tobias
Claes, Filip
Vikkula, Miikka
Citation: Ghassibe-sabbagh, Michella et al., FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 150-161
Authors:
Shah, Anish M.
Tamang, Rakesh
Moorjani, Priya
Selvi Rani, Deepa
Citation: M. Shah, Anish et al., Indian Siddis: African Descendants with Indian Admixture, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 154-161
Authors:
Senderek, Jan
Müller, Juliane S.
Dusl, Marina
Strom, Tim M.
Lochmüller, Hanns
Citation: Senderek, Jan et al., Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 162-172
Authors:
Vilariño-Güell, Carles
Wider, Christian
Ross, Owen A.
Dachsel, Justus C.
Citation: Vilariño-güell, Carles et al., VPS35 Mutations in Parkinson Disease, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 162-167
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Authors:
Zimprich, Alexander
Benet-Pagès, Anna
Struhal, Walter
Graf, Elisabeth
Citation: Zimprich, Alexander et al., A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 168-175
Authors:
Browning, Brian L.
Browning, Sharon R.
Citation: L. Browning, Brian et R. Browning, Sharon, A Fast, Powerful Method for Detecting Identity by Descent, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 173-182
Authors:
Arshad Rafiq, Muhammad
Kuss, Andreas W.
Puettmann, Lucia
Noor, Abdul
Citation: Arshad Rafiq, Muhammad et al., Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 176-182
Authors:
Sergouniotis, Panagiotis I.
Davidson, Alice E.
Mackay, Donna S.
Li, Zheng
Citation: I. Sergouniotis, Panagiotis et al., Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 183-190
Authors:
Jordan, Daniel M.
Kiezun, Adam
Baxter, Samantha M.
Agarwala, Vineeta
Sunyaev, Shamil R.
Citation: M. Jordan, Daniel et al., Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 183-192
Authors:
Belostotsky, Ruth
Ben-Shalom, Efrat
Rinat, Choni
Becker-Cohen, Rachel
Frishberg, Yaacov
Citation: Belostotsky, Ruth et al., Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 193-200
Authors:
Williamson, Robin E.
Citation: E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 197-198
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 199-200
Authors:
Flück, Christa E.
Meyer-Böni, Monika
Pandey, Amit V.
Kempná, Petra
Citation: E. Flück, Christa et al., Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 201-218
Authors:
Züchner, Stephan
Dallman, Julia
Wen, Rong
Beecham, Gary
Peri.ak-Vance, Margaret A.
Citation: Züchner, Stephan et al., Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 201-206
Authors:
Zelinger, Lina
Banin, Eyal
Obolensky, Alexey
Mizrahi-Meissonnier, Liliana
Sharon, Dror
Citation: Zelinger, Lina et al., A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 207-215
Authors:
Banka, Siddharth
Blom, Henk J.
Walter, John
Aziz, Majid
Newman, William G.
Citation: Banka, Siddharth et al., Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 216-225
Authors:
Rivière, Jean-Baptiste
Ramalingam, Siriram
Lavastre, Valérie
Shekarabi, Masoud
Citation: Rivière, Jean-baptiste et al., KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 219-230