檢索結果 - Idit Maya
- Showing 1 - 7 results of 7
-
1
-
2
-
3
-
4
-
5
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations 由 Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon‐Fishman, Lital Cohen-Vig, Yael Goldberg, R Berger, Lina Basel‐Salmon, Mordechai Shohat
出版 2017Artigo -
6
RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome 由 Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs‐Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak‐Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Richard N. Bergman, Mia Horowitz, Akemi Ishida‐Yamamoto, Eli Sprecher
出版 2009Artigo -
7
Noncoding copy-number variations are associated with congenital limb malformation 由 Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska‐Seidler, Laure Bosquillon de Jarcy, Johannes Maximilian Wagner, Aleksander Jamsheer, Barbara Oehl‐Jaschkowitz, Lars Wittler, Deepthi De Silva, Ingo Kurth, Idit Maya, Fernando Santos‐Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, Malte Spielmann
出版 2017Artigo
相關主題
Biology
Gene
Genetics
Medicine
Copy-number variation
Fetus
Genome
Obstetrics
Pregnancy
Aneuploidy
Chromosome
Internal medicine
Phenotype
Cohort
Gene expression
Genetic counseling
Gynecology
Pediatrics
Prenatal diagnosis
Retrospective cohort study
Andrology
Aorta
Aortic arch
Autism
Bioinformatics
Candidate gene
Comparative genomic hybridization
Cutis laxa
Dermatology
Enhancer