Kamilla Schlade-Bartusiak

发表

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

M. Hurles, H. Cross, R. Maroofian, 2013, Brain : a journal of neurology.

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin‐induced chromosomal aberrations

M. Sasiadek, N. Blin, A. Stembalska, 2007, Environmental and molecular mutagenesis.

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

S. Ellard, C. V. van Karnebeek, S. Flanagan, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Steven J. M. Jones, C. Boerkoel, P. Eydoux, 2021, American journal of medical genetics. Part A.

Uniparental disomy: can SNP array data be used for diagnosis?

P. Eydoux, T. Tucker, T. Nelson, 2012, Genetics in Medicine.

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

M. Nowaczyk, A. Summers, D. Cox, 2005, American journal of medical genetics. Part A.

Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

M. V. Van Allen, T. Tucker, T. Nelson, 2016, Clinical dysmorphology.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

A. Stembalska, D. Ramsey, Kamilla Schlade-Bartusiak, 2005, Journal of applied genetics.

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Steven J. M. Jones, C. Boerkoel, Luka Culibrk, 2022, American journal of medical genetics. Part A.

A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations

D. Cox, H. Ardinger, Kamilla Schlade-Bartusiak, 2009, American journal of medical genetics. Part A.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

H. Bruyèrè, P. Eydoux, B. McGillivray, 2012, American journal of medical genetics. Part A.

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.

D. Cox, G. Macintyre, J. Tison, 2009, Biochimie.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

B. Schlaggar, J. Shimony, M. Shinawi, 2014, American journal of medical genetics. Part A.

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

P. Eydoux, L. Armstrong, M. V. Van Allen, 2013, European journal of medical genetics.

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

D. Cox, G. Macintyre, J. Zunich, 2008, American journal of medical genetics. Part A.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

O. Caluseriu, J. Chernos, D. R. Mcleod, 2021, Clinical dysmorphology.

Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

E. Strong, M. Volodarsky, M. Steinraths, 2022, F&S reports.

A co‐occurrence of osteogenesis imperfecta type VI and cystinosis

F. Glorieux, P. Roughley, F. Rauch, 2012, American journal of medical genetics. Part A.

A co‐occurrence of osteogenesis imperfecta type VI and cystinosis

F. Glorieux, P. Roughley, F. Rauch, 2012, American journal of medical genetics. Part A.