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Journal of Assisted Reproduction and Genetics|April 29, 2022
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermiaNeda Saebnia, Reza Ebrahimzadeh-Vesal, Aliakbar Haddad-Mashhadrizeh, et al.American Journal of Medical Genetics. Part A|April 2, 2010
Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1)Lilia Moreira, Albert Schinzel, Alessandra Baumer, et al.American Journal of Medical Genetics. Part A|July 24, 2012
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotypeAnne Frühmesser, Edda Haberlandt, Werner Judmaier, et al.Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.European Journal of Human Genetics : EJHG|February 18, 2011
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18Ariana Kariminejad, Roxana Kariminejad, Azadeh Moshtagh, et al.Molecular Syndromology|September 8, 2017
Low-Level Chromosomal Mosaicism in Neurodevelopmental DisordersBeatrice Oneda, Reza Asadollahi, Silvia Azzarello-Burri, et al.Human Molecular Genetics|April 2, 2003
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGiorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, et al.American Journal of Medical Genetics. Part A|August 6, 2013
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complicationsAlbert Schinzel, Mariluce Riegel, Alessandra Baumer, et al.Nature|April 16, 2010
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplexYutaka Shimomura, Dritan Agalliu, Alin Vonica, et al.European Journal of Medical Genetics|September 24, 2005
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotypeJoris Robert Vermeesch, Cindy Melotte, Ivo Salden, et al.Pageof 6