Lista de obras - Charlotte W Ockeloen - Dominio Público Uruguay

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

artículo científico publicado en 2013

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

artículo científico publicado en 2017

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

artículo científico publicado en 2012

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

artículo científico publicado en 2015

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

artículo científico publicado en 2017

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

artículo científico publicado en 2017

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.

artículo científico publicado en 2017

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.

artículo científico publicado en 2016

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

artículo científico publicado en 2013

Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial.

artículo científico publicado en 2012

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

artículo científico publicado en 2013

Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1

artículo científico publicado en 2015

Quantum metrology with a scanning probe atom interferometer

artículo científico publicado en 2013

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

artículo científico publicado en 2010

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

artículo científico publicado en 2015

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

artículo científico publicado en 2010

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

artículo científico publicado en 2014

Tooth agenesis and orofacial clefting: genetic brothers in arms?

artículo científico publicado en 2016

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome

artículo científico publicado en 2010

Variability in dentofacial phenotypes in four families with WNT10A mutations

artículo científico publicado en 2014

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

artículo científico

[Solitary median maxillary central incisor syndrome]

artículo científico publicado en 2014

[Tooth eruption disturbances and syndromes]

artículo científico publicado en 2014

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

artículo científico publicado en 2015

Lista de obras de Charlotte W Ockeloen

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial.

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1

Quantum metrology with a scanning probe atom interferometer

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome

Variability in dentofacial phenotypes in four families with WNT10A mutations

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

[Solitary median maxillary central incisor syndrome]

[Tooth eruption disturbances and syndromes]

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes