M. Hernández-Marcos

发表

Two-step ATP-driven opening of cohesin head

Jesús I. Mendieta-Moreno, J. Mendieta, B. Puisac, 2017, Scientific Reports.

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2014, Clinical genetics.

Special cases in Cornelia de Lange syndrome: The Spanish experience

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

L. Armengol, B. Puisac, M. Teresa-Rodrigo, 2014, European journal of medical genetics.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Lange Syndrome-overlapping phenotypes

J. Ganesh, H. Hakonarson, Yiran Guo, 2014 .

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

P. Lapunzina, F. Santos-Simarro, B. Puisac, 2014, International journal of molecular sciences.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2017, International journal of molecular sciences.

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

B. Puisac, P. Gómez-Puertas, J. Pié, 2018, International journal of molecular sciences.

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2013, European journal of medical genetics.