检索结果 - Goodship, Judith

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

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

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Medical genetics: advances in brief 由 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 由 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 由 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 由 Goodship, Judith

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

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Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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