José E. Martínez

发表

Elevated plasma gamma-aminobutyric acid (GABA) levels in autistic youngsters: stimulus for a GABA hypothesis of autism.

P. Maertens, L. Bland, D. Dhossche, 2002, Medical science monitor : international medical journal of experimental and clinical research.

Fertility and the cri du chat syndrome

W. Wertelecki, C. Tuck-Muller, José E. Martínez, 1993, Clinical genetics.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

P. Maertens, W. Wertelecki, Yue-ying Wang, 2006, American journal of medical genetics. Part A.

Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

J. Korenberg, Shibo Li, G. Stetten, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Shibo Li, D. Batista, Harold Chen, 1995, Human Genetics.

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

E. Manci, Arsalan Ahmed, P. Maertens, 2005, American journal of medical genetics. Part A.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

P. Pearson, D. Batista, G. Stetten, 1993, Human Genetics.

Duplication of the short arm of the X chromosome in mother and daugther

D. Batista, W. Kearns, W. Wertelecki, 1993, Human Genetics.

Craniofacial Dysmorphism and Developmental Disorders Among Children with Chromosomal Microdeletions and Duplications of Unknown Significance

S. J. Anderson, José E. Martínez, H. Swingle, 2011, Journal of developmental and behavioral pediatrics : JDBP.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)

Z. Ou, M. L. Cooper, S. Cheung, 2008, American journal of medical genetics. Part A.

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Marilyn M. Li, Yiping Shen, David T. Miller, 2010, The Journal of molecular diagnostics : JMD.

Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome

P. Maertens, José E. Martínez, J. Bhat, 2018, Clinical pediatrics.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

Trassanee Chatmethakul, José E. Martínez, Ramachandra Bhat, 2019, Journal of Pediatric Genetics.

Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts.

Shibo Li, W. Wertelecki, C. Tuck-Muller, 2002, American journal of medical genetics.

Adrenal insufficiency in Smith-Lemli-Opitz syndrome.

H. Andersson, J. Frentz, C. Tuck-Muller, 1999, American journal of medical genetics.

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Marilyn M. Li, Yiping Shen, David T. Miller, 2010, The Journal of molecular diagnostics : JMD.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)

Z. Ou, M. L. Cooper, S. Cheung, 2008, American journal of medical genetics. Part A.