Results : 76-100/322
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:
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(2), 2010, pp. 163-164
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 165-167
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:
Vander Weele, Tyler
Citation: Vander Weele, Tyler, Genetic Self Knowledge and the Future of Epidemiologic Confounding Tyler Vander Weele Pages 168-172 View PDF Articles, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 168-172
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Authors:
Whibley, Annabel C
Plagnol, Vincent
Tarpey, Patrick S.
Abidi, Fatima
Raymond, F. Lucy
Citation: C. Whibley, Annabel et al., Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 173-188
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:
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:
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:
Malan, Valérie
Rajan, Diana
Thomas, Sophie
Shaw, Adam C.
Cormier-Daire, Valérie
Citation: Malan, Valérie et al., Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 189-198
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:
Bandah-Rozenfeld, Dikla
Collin, Rob W.J.
Banin, Eyal
Ingeborgh van den Born, L.
den Hollander, Anneke I.
Citation: Bandah-rozenfeld, Dikla et al., Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 199-208
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:
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:
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:
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:
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:
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:
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:
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
Authors:
Cario, Holger
Smith, Desirée E.C.
Blom, Henk
Blau, Nenad
Schwarz, Klaus
Citation: Cario, Holger et al., Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 226-231
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:
Bae, Gyu-Un
Domené, Sabina
Roessler, Erich
Schachter, Karen
Citation: Bae, Gyu-un et al., Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 231-240