• 212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015
• A case of Bartter's syndrome, gout and Becker's muscular dystrophy
• A complex adaptive syndrome in Drosophila caused by microclimatic contrasts
• A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region
• A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
• A novel Wilms' tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema
• Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome
• Angiotensin 1-7 as means to prevent the metabolic syndrome: lessons from the fructose-fed rat model
• Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy
• Autologous Hematological Stem Cell Transplantation for Systemic Sclerosis in Israel
• Basal cell nevus syndrome
• Basal cell nevus syndrome. Presentation of 2 cases. 1 associated with medulloblastoma
• Becker nevus syndrome
• Becker Nevus: 4 Cases of a Rare Syndrome
• Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function
• Capsule endoscopy images in blue rubber bleb nevus syndrome
• Childhood acute and chronic immune-mediated polyradiculoneuropathies
• Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
• Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
• Cyclic vomiting syndrome in children
• Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling
• Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
• Defects in t⁶A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
• Defining a clinically significant struvite stone: a non-randomized retrospective study
• Differential expression profiling of the blind subterranean mole rat Spalax ehrenbergi superspecies: bioprospecting for hypoxia tolerance
• Disseminated pigmented nevus syndrome
• Domestication quantitative trait loci in Triticum dicoccoides, the progenitor of wheat
• Electromyography (EMG) accuracy compared to muscle biopsy in childhood
• Empty SV40 capsids increase survival of septic rats by eliciting numerous host signaling networks that participate in a number of systemic functions
• Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome
• Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients
• Epidermal nervus syndrome
• Epidermal nevus syndrome - a case report
• Epidermal nevus syndrome with multiple vascular hamartomas and malformations
• Epidermic nevus syndrome of Solomon. Verruco-sebaceous nevus with syringocystadenoma papilliferum and pilomatrixoma
• Familial malignant melanoma and its relation to dysplastic nevus syndrome: considerations on 6 clinical cases
• Fruit Odor as A Ripeness Signal for Seed-Dispersing Primates? A Case Study on Four Neotropical Plant Species
• Further delineation of Nevo syndrome
• Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome
• Giant congenital melanocytic nevi
• Goldenhar syndrome and medulloblastoma: a coincidental association? The first case report
• Gorlin Syndrome
• Hair tourniquet syndrome in melanocytic nevus
• Halo Nevus (HN) in Turner's syndrome (ST): caracteristics and correlation with patient's age
• Headache and fainting as initial symptoms of syringomyelia associated to Arnold-Chiari and facial angiomatous nevus
• Hereditary family signature of facial expression
• High seroprevalence but short-lived immune response to SARS-CoV-2 infection in Paris
• Histopathologic diagnosis of dysplastic nevi: concordance among pathologists convened by the World Health Organization Melanoma Programme
• Histopathologic recognition and grading of dysplastic melanocytic nevi: an interobserver agreement study
• Hormonal and volume dysregulation in women with premenstrual syndrome
• Human Nasal and Lung Tissues Infected <em>Ex Vivo</em> with SARS-CoV-2 Provide Insights into Differential Tissue-Specific and Virus-Specific Innate Immune Responses in the Upper and Lower Respiratory Tract
• Human sex hormone-binding globulin does not provide metabolic protection against diet-induced obesity and dysglycemia in mice
• Indirect protection of children from SARS-CoV-2 infection through parental vaccination
• Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis
• Intestinal hemorrhage for 21 years in a case of blue nevus syndrome
• Intradermal cerebriform nevus as cause of cutis verticis gyrata
• Intrinsic Bone Defects in Cystinotic Mice
• Jadassohn's sebaceous nevus and cutis verticis gyrata
• Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis
• Lower levels of inhibin A and pro-alphaC during the luteal phase after triggering oocyte maturation with a gonadotropin-releasing hormone agonist versus human chorionic gonadotropin
• Macrocephaly in children with developmental disabilities
• Maffucci's syndrome--the result of neural abnormalities? Evidence of mitogenic neurotransmitters present in enchondromas and soft tissue hemangiomas
• Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin
• Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
• Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
• Neonatal course and outcome of twins from reduced multifetal pregnancy versus non-reduced twins
• Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome
• Neuroimaging of children with partial seizures
• Neurotransmitter and neuromodulatory mechanisms involved in alcohol abuse and alcoholism
• Nevo syndrome
• Nevo syndrome
• Nevo syndrome
• Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)
• Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
• Nevus flammeus of the face and correlated syndromes
• Nevus psiloliparus in a child with encephalocraniocutaneous lipomatosis
• NMO-IgG and AQP4 Peptide Can Induce Aggravation of EAMG and Immune-Mediated Muscle Weakness
• NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum
• Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD
• Postoperative Rise of Circulating Mitochondrial DNA Is Associated with Inflammatory Response in Patients following Pancreaticoduodenectomy
• Prevalence of COVID-19 and seroprevalence to SARS-CoV-2 in a rheumatologic patient population from a tertiary referral clinic in Israel
• Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression
• Recombinant activated factor VII usage in life threatening hemorrhage: a pediatric experience
• Role of ultrasound for assessment of psoriatic arthritis patients with fibromyalgia
• Schimmelpenning-Feuerstein-Mims syndrome, a variant of the epidermal nevus syndrome
• SCLC, Paraneoplastic Dermatomyositis, Positive Transcription Intermediary Factor 1-γ, and Point Mutation in the Transcription Intermediary Factor 1-γ Coding Gene: A Case Report
• Sebaceous linear nevus syndrome with hemimegalencephaly. Report of a case
• Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents
• Solomon's epidermal nevus syndrome and its importance in urology
• Sporadic dysplastic nevus
• Stone culture in patients undergoing percutaneous nephrolithotomy: a practical point of view
• Sturge-Weber syndrome with bilateral intracranial calcifications and no cutaneous nevus. A propos of 2 cases
• Superior vena cava syndrome - changing etiology in the third millennium
• The Clark ("dysplastic") nevus in Mexico
• The illusiveness of seed dispersal syndromes. A commentary on: Fleshy fruit traits and seed dispersers: which traits define syndromes?
• The role of tissue adaptation and graft size in immune tolerance
• Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys
• Typical absence epilepsy presenting prior to age of 3 years: an uncommon form of idiopathic generalized epilepsy
• Why perform routine brain sonography in late preterm infants?
• Worster-Drought and congenital perisylvian syndromes-a continuum?