L. Albano

发表

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

J. Krieger, A. Pereira, C. Kim, 2006, Genetic testing.

Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder

H. van Bokhoven, H. Scheffer, R. Meijer, 2004, Clinical genetics.

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

J. Krieger, A. Pereira, C. Kim, 2007, Journal of Human Genetics.

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study.

G. Koren, C. Kim, D. Brunoni, 2000, American journal of medical genetics.

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

C. Kim, J. Mazzeu, A. Vianna-Morgante, 2011, American journal of medical genetics. Part A.

Microduplication of the ICR 2 Domain at Chromosome 11 p 15 and Familial Silver – Russell Syndrome

C. Kim, J. Mazzeu, A. Vianna-Morgante, 2011 .

Further delineation of Char syndrome

D. Bertola, L. Albano, S. Sugayama, 2000, Pediatrics international : official journal of the Japan Pediatric Society.

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

D. Bertola, L. Albano, R. Honjo, 2009, American journal of medical genetics. Part A.

Noonan syndrome: a clinical and genetic study of 31 patients.

D. Bertola, L. Albano, S. Sugayama, 1999, Revista do Hospital das Clinicas.

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

C. Kim, Tatiana Ferreira de Almeida, D. Bertola, 2012, Clinics.

Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities

M. Passos-Bueno, C. Kim, D. Bertola, 2010, American journal of medical genetics. Part A.

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

C. Kim, W. Van Hul, D. Bertola, 2008, Genetic testing.

Cardiac findings in 31 patients with Noonan's syndrome.

D. Bertola, L. Albano, S. Sugayama, 2000, Arquivos brasileiros de cardiologia.

Hematological findings in Noonan syndrome.

C. Kim, J. Carneiro, D. Bertola, 2003, Revista do Hospital das Clinicas.

Cockayne syndrome type A: novel mutations in eight typical patients

R. Hegele, C. Kim, H. Cao, 2006, Journal of Human Genetics.

Angiokeratoma: a cutaneous marker of Fabry’s disease

L. Albano, R. Honjo, R. Giugliani, 2010, Clinical and experimental dermatology.

AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

D. Bertola, L. Albano, D. R. Bertola, 2000, Pediatric dermatology.

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

K. Grzeschik, R. Happle, C. Kim, 2005, Dermatology.

Spondylocostal dysostosis associated with methylmalonic aciduria.

S. Ellard, C. Kim, D. Bertola, 2009, Genetic testing and molecular biomarkers.

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

R. Giugliani, D. Bertola, L. Albano, 2000, Revista do Hospital das Clinicas.

Dental Evaluation of Kabuki Syndrome Patients

C. Kim, D. Bertola, L. Albano, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

L. Albano, S. Sugayama, S. A. Nishióka, 2002, Arquivos brasileiros de cardiologia.

Assessment of Intellectual and Visuo Spatial Abilities in Children and Adults with Williams Syndrome

C. Kim, D. Bertola, L. Albano, 2013 .

Omodysplasia: the first reported Brazilian case.

C. Kim, D. Bertola, L. Albano, 2007, Clinics.

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

C. Kim, D. Bertola, L. Albano, 2009, European journal of medical genetics.

Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients

S. Robertson, C. Kim, D. Bertola, 2007, Clinical dysmorphology.

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.

A. Agarwal, C. Kim, R. El Dib, 2017, Intractable & rare diseases research.

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.

M. Zatz, A. Monticelli, S. Cocozza, 2001, Revista do Hospital das Clinicas.

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

C. Kim, D. Bertola, L. Albano, 2004, Revista do Hospital das Clínicas.