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The clinical overlap between cardiac‐urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac‐urogenital syndrome

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1532-1534

2020

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MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

European journal of medical genetics, 2016-09, Vol.59 (9), p.478-482

2016

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A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature

Neuropediatrics, 2023-04, Vol.54 (2), p.120-125

2023

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Diagnostic yield of next-generation sequencing applied to neurological disorders

Journal of clinical neuroscience, 2019-09, Vol.67, p.14-18

2019

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Wiedemann‐Steiner syndrome in two patients from Portugal

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.25-28

2020

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Neurologic phenotypes associated with COL4A1 / 2 mutations: Expanding the spectrum of disease

Neurology, 2018-11, Vol.91 (22), p.e2078

2018

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Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.9, Article 9

2023

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2D LiDAR-based System for Canopy Sensing in Smart Spraying Applications

IEEE access, 2023-01, Vol.11, p.1-1

2023

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Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism

Journal of Pediatric Endocrinology and Metabolism, 2019-11, Vol.32 (11), p.1265-1273

2019

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12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

BMC medical genomics, 2020-01, Vol.13 (1), p.2-6, Article 2

2020

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Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy

Journal of child neurology, 2015-04, Vol.30 (5), p.622-624

2015

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Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1311-1316

2022

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VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2020-04, Vol.21 (3-4), p.291-295

2020

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ACAN Pathogenic Variant as a Cause of Short Stature

Portuguese journal of pediatrics (Online), 2023-01, Vol.54 (1)

2023

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Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity

Epileptic disorders, 2021-10, Vol.23 (5), p.765-768

2021

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Brain Herniation into the Dural Venous Sinus

The Journal of pediatrics, 2016-07, Vol.174, p.276-276

2016

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Mandibulofacial dysostosis with microcephaly: a syndrome to remember

BMJ case reports, 2019-08, Vol.12 (8), p.e229831

2019

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Torcular pseudomass: a potential diagnostic pitfall in infants and young children

Pediatric radiology, 2017-02, Vol.47 (2), p.227-234

2017

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Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1768-1772

2013

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Fire Blight Management: Physiological Assessment of Cultural Control By Pruning in Pear Orchards

Agriculture, 2020-11, Vol.66 (3), p.128-136

2020

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BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome

Muscle & nerve, 2015-03, Vol.51 (3), p.456-458

2015

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Syndrome of Transient Headache and Neurologic Deficits With Cerebrospinal Fluid Lymphocytosis (HaNDL): A Pediatric Case Report

Journal of child neurology, 2013-12, Vol.28 (12), p.1661-1663

2013

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Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype

Neuropediatrics, 2015-04, Vol.46 (2), p.134-138

2015

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Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2839-2843

2015

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Rett-like Syndrome in a Pediatric Patient—A Challenging Diagnosis

Journal of pediatric neurology, 2021-04, Vol.19 (2), p.113-115

2021

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The clinical overlap between cardiac‐urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac‐urogenital syndrome

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature

Diagnostic yield of next-generation sequencing applied to neurological disorders

Wiedemann‐Steiner syndrome in two patients from Portugal

Neurologic phenotypes associated with COL4A1 / 2 mutations: Expanding the spectrum of disease

Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

2D LiDAR-based System for Canopy Sensing in Smart Spraying Applications

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

ACAN Pathogenic Variant as a Cause of Short Stature

Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity

Brain Herniation into the Dural Venous Sinus

Mandibulofacial dysostosis with microcephaly: a syndrome to remember

Torcular pseudomass: a potential diagnostic pitfall in infants and young children

Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis

Fire Blight Management: Physiological Assessment of Cultural Control By Pruning in Pear Orchards

BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome

Syndrome of Transient Headache and Neurologic Deficits With Cerebrospinal Fluid Lymphocytosis (HaNDL): A Pediatric Case Report

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

Rett-like Syndrome in a Pediatric Patient—A Challenging Diagnosis

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