نتائج البحث - Goodship, Judith

Medical genetics: advances in brief: Girls with fragile X syndrome: physical and neurocognitive status and outcome حسب Goodship, Judith

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Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion حسب Goodship, Judith

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Medical genetics: advances in brief: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes حسب Goodship, Judith

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Medical genetics: advances in brief: Recombination of 4p16 DNA markers in an unusual family with Huntington disease حسب Goodship, Judith

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Medical genetics: advances in brief حسب Goodship, Judith

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Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening حسب Goodship, Judith

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Medical genetics: advances in brief: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism حسب Goodship, Judith

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Medical genetics: advances in brief: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus حسب Goodship, Judith

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Medical genetics: advances in brief: Rubinstein-Taybi syndrome caused by submicroscopic deletions with 16p13.3 حسب Goodship, Judith

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Medical genetics: advances in brief: X-linked borderline mental retardation with prominent behavioural disturbance: phenotype, genetic localization, and evidence for disturbed mono... حسب Goodship, Judith

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Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 حسب Goodship, Judith, Gill, Harinder, Carter, Joan, Jackson, Andrew, Splitt, Miranda, Wright, Michael

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A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation حسب Adam, Jennifer, Browning, Andrew C., Vaideanu, Daniela, Heidet, Laurence, Goodship, Judith A., Sayer, John A.

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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA) حسب Muncke, Nadja, Niesler, Beate, Roeth, Ralph, Schön, Karin, Rüdiger, Heinz-Juergen, Goldmuntz, Elizabeth, Goodship, Judith, Rappold, Gudrun

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation حسب Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.

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Using population data for assessing next-generation sequencing performance حسب Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro

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Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus حسب Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A

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Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration حسب Veland, Iben R., Montjean, Rodrick, Eley, Lorraine, Pedersen, Lotte B., Schwab, Albrecht, Goodship, Judith, Kristiansen, Karsten, Pedersen, Stine F., Saunier, Sophie, Christensen, Søren T.

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A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti حسب Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso

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Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32 حسب Holmes, Lucy V., Strain, Lisa, Staniforth, Scott J., Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A., Cordell, Heather J., Goodship, Timothy H. J.

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Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition حسب Richards, Anna, Buddles, Mark R., Donne, Rosemary L., Kaplan, Bernard S., Kirk, Edwin, Venning, Michael C., Tielemans, Christian L., Goodship, Judith A., Goodship, Timothy H. J.

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