author-photo

Juan Antonio Bafalliu

Instituto de Salud Carlos III

9

Papers

102

Citations

Citation Trend

Filter By

Papers (9) Sort By

Journal Conference Others

Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

2015 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (15)
Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

2014 Genomics
Show All
- Source
- Cite
- Save
Citations (2)
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

2013 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (6)
Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway

2012 Gene
Show All
- Source
- Cite
- Save
Citations (14)
Molecular Characterization of a New Patient With a Non-Recurrent Inv Dup Del 2q and Review of the Mechanisms for This Rearrangement

2010 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (10)
Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes†

2009 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (10)
Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

2008 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (5)
Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

2006 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (33)
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin

2006 European Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (7)