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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Clinical genetics, 2013-12, Vol.84 (6), p.539-545

2013

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Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

Journal of endocrinological investigation, 2023-08, Vol.46 (8), p.1673-1684

2023

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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Journal of medical genetics, 2023-07, Vol.60 (7), p.685-691

2023

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OP09.07: Pathogenic chromosomal findings in fetuses with cleft lip ± palate: a 10‐year‐long observational study

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.87-87

2021

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Osteogénesis imperfecta

Medicina clínica, 2014-12, Vol.143 (12), p.e23-e23

2014

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Two splenic sequestrations in an infant with homozygous sickle cell anemia

Anales de pediatría (Barcelona, Spain : 2003), 2007-03, Vol.66 (3), p.322

2007

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Clinical genetics, 2023-07, Vol.104 (1), p.100-106

2023

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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.135-143

2023

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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Scientific reports, 2017-03, Vol.7 (1), p.44138-44138, Article 44138

2017

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

Journal of medical genetics, 2024-02, Vol.61 (2), p.132-141

2024

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in medicine, 2023-02, Vol.25 (2), p.100004-100004, Article 100004

2023

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

Human genome variation, 2020-06, Vol.7 (1), p.20-20, Article 20

2020

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ANALYSIS OF THE FIELD EFFICIENCY OF SUGARCANE HARVESTERS

INMATEH - Agricultural Engineering, 2021-03, p.301-308

2021

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Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant

Clinical genetics, 2024-09, Vol.106 (3), p.342-346

2024

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604

2013

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Two splenic sequestrations in an infant with homozygous sickle cell anemia

Anales de pediatria (Barcelona, Spain : 2003), 2007, Vol.66 (3), p.322-323

2007

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PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2610-2622

2023

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Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al

Genetics in medicine, 2022-03, Vol.24 (3), p.754-756

2022

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Presacral carcinoid tumors: report of three cases and review of the literature

The American journal of surgical pathology, 1998-02, Vol.22 (2), p.251-255

1998

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Energy Use Efficiency of Organic and Conventional Cropping Systems of Sugarcane

Transactions of the ASABE, 2020, Vol.63 (2), p.259-264

2020

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e1016-n/a

2019

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Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Kidney international reports, 2023-07, Vol.8 (7), p.1417-1429

2023

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis

Anales de Pediatría, 2018-07, Vol.89 (1), p.3-11

2018

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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

OP09.07: Pathogenic chromosomal findings in fetuses with cleft lip ± palate: a 10‐year‐long observational study

Osteogénesis imperfecta

Two splenic sequestrations in an infant with homozygous sickle cell anemia

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

Nemertean taxonomy—Implementing changes in the higher ranks, dismissing Anopla and Enopla

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

ANALYSIS OF THE FIELD EFFICIENCY OF SUGARCANE HARVESTERS

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Two splenic sequestrations in an infant with homozygous sickle cell anemia

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al

Presacral carcinoid tumors: report of three cases and review of the literature

Energy Use Efficiency of Organic and Conventional Cropping Systems of Sugarcane

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis

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