| 1 |
Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2.
61
|
Takenouchi T...Kosaki K
|
32487849 |
2020 |
| 2 |
Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2.
61
|
Xia JK...Kong XD
|
32482602 |
2020 |
| 3 |
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
61
|
Zhang P...Wang H
|
31985178 |
2020 |
| 4 |
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.
61
|
Higgins R...Guenova E
|
31502654 |
2020 |
| 5 |
Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.
61
|
Smigiel R...Ploski R
|
31425299 |
2019 |
| 6 |
Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing.
61
|
Zhang X...Cui B
|
30991391 |
2019 |
| 7 |
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.
61
|
Shen W...Ji Y
|
29399782 |
2018 |
| 8 |
Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.
61
|
Yu T...Wang J
|
27654142 |
2016 |
| 9 |
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
61
|
Carmichael H...Dauber A
|
23167750 |
2013 |
| 10 |
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
61
|
Haudry C...Lebre AS
|
23141463 |
2012 |
| 11 |
Small supernumerary marker chromosomes and uniparental disomy have a story to tell.
61
|
Liehr T...Manvelyan M
|
21673185 |
2011 |
| 12 |
Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia.
61
|
Kawamata N...Koeffler HP
|
19424578 |
2009 |
| 13 |
Point-contact spectroscopy of the heavy-fermion superconductor CePt(3)Si.
61
|
Onuki R...Onuki Y
|
21817336 |
2009 |
| 14 |
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
61
|
Talseth-Palmer BA...Scott RJ
|
19372674 |
2009 |
| 15 |
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
61
|
Kantarci S...Pober BR
|
18553518 |
2008 |
| 16 |
Magnetization dynamics in the normal and superconducting phases of UPd(2)Al(3): II. Inferences on the nodal gap symmetry.
61
|
Bernhoeft N...Roessli B
|
21690811 |
2006 |
| 17 |
Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain.
61
|
Schulz R...Oakey RJ
|
16518691 |
2006 |
| 18 |
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.
61
|
Spiekerkoetter U...Summar M
|
12442268 |
2002 |
| 19 |
Spin-triplet superconductivity in UNi(2)Al(3) revealed by the (27)Al Knight shift measurement.
61
|
Ishida K...Steglich F
|
12144411 |
2002 |
| 20 |
Nature of heavy quasiparticles in magnetically ordered heavy fermions UPd(2)Al(3) and UPt(3).
61
|
Dressel M...Adrian H
|
12005706 |
2002 |
| 21 |
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.
61
|
Fridman C...Koiffmann CP
|
10861661 |
2000 |
| 22 |
Polarization analysis in the 3-25 keV range at the ESRF magnetic scattering beamline.
61
|
Stunault A...Chagnon R
|
15263728 |
1998 |
| 23 |
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.
61
|
Hansen WF...Kalousek DK
|
9178319 |
1997 |
| 24 |
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.
61
|
Harrison K...Brown S
|
8533806 |
1995 |
