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                             23 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia Nousbeck, Janna
 2011
 89 2 p. 302-307
6 p.
 artikel
2 Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype Palomares, María
 2011
 89 2 p. 295-301
7 p.
 artikel
3 Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa Özgül, Rıza Köksal
 2011
 89 2 p. 253-264
12 p.
 artikel
4 Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease Weedon, Michael N.
 2011
 89 2 p. 308-312
5 p.
 artikel
5 Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation Doi, Hiroshi
 2011
 89 2 p. 320-327
8 p.
 artikel
6 GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development Larsson, Mats
 2011
 89 2 p. 334-343
10 p.
 artikel
7 KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 Rivière, Jean-Baptiste
 2011
 89 2 p. 219-230
12 p.
 artikel
8 Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors Poulton, Cathryn J.
 2011
 89 2 p. 265-276
12 p.
 artikel
9 Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms Abu-Safieh, Leen
 2011
 89 2 p. 313-319
7 p.
 artikel
10 Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia Sirmaci, Asli
 2011
 89 2 p. 289-294
6 p.
 artikel
11 Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors Bae, Gyu-Un
 2011
 89 2 p. 231-240
10 p.
 artikel
12 Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis Nosková, Lenka
 2011
 89 2 p. 241-252
12 p.
 artikel
13 Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Burkitt Wright, Emma M.M.
 2011
 89 2 p. 346-
1 p.
 artikel
14 Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability Rafiq, Muhammad Arshad
 2011
 89 2 p. 348-
1 p.
 artikel
15 Recent Admixture in an Indian Population of African Ancestry Narang, Ankita
 2011
 89 2 p. 344-
1 p.
 artikel
16 Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome Shaheen, Ranad
 2011
 89 2 p. 328-333
6 p.
 artikel
17 Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression Tzeng, Jung-Ying
 2011
 89 2 p. 277-288
12 p.
 artikel
18 This Month in Genetics Garber, Kathryn B.
 2011
 89 2 p. 199-200
2 p.
 artikel
19 This month in The Journal Williamson, Robin E.
 2011
 89 2 p. 197-198
2 p.
 artikel
20 Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency Rope, Alan F.
 2011
 89 2 p. 345-
1 p.
 artikel
21 VPS35 Mutations in Parkinson Disease Vilariño-Güell, Carles
 2011
 89 2 p. 347-
1 p.
 artikel
22 Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation Flück, Christa E.
 2011
 89 2 p. 201-218
18 p.
 artikel
23 Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation Flück, Christa E.
 2011
 89 2 p. 347-
1 p.
 artikel
                             23 gevonden resultaten
 
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