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Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Children (Basel), 2024-08, Vol.11 (8), p.1033

2024

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Disparities in outcomes of colorectal cancer surgery among adults with intellectual and developmental disabilities

PloS one, 2024-08, Vol.19 (8), p.e0308938

2024

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Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome

The Gazette of the Egyptian Paediatric Association, 2024-08, Vol.72 (1), p.60-5

2024

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

Human genome variation, 2024-08, Vol.11 (1), p.29-3

2024

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“Nothing about Us without Us” Meets the “All Teach, All Learn” Model: Autistic Self-Advocates as Leaders and Collaborators in Project ECHO

Education sciences, 2024-08, Vol.14 (8), p.910

2024

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Assessing Health-Related Quality of Life in Children with Spina Bifida in Lithuania

Ali, Faris Magdi Genawi Mohamed

2017

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Shank3 Gene : Genotype-Phenotype Relationship in a Sample With Autism Spectrum Disorder And/or Intellectual Developmental Disability

da Conceição Carreira, Maria Inês

2019

Volltextzugriff (PDF)

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements

Genes, 2024-08, Vol.15 (8), p.1053

2024

Volltextzugriff (PDF)

Association of Serum Extracellular Vesicle miRNAs with Cognitive Functioning and Quality of Life in Parkinson’s Disease

Biomolecules (Basel, Switzerland), 2024-08, Vol.14 (8), p.1000

2024

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Application of Brain Organoids to Study Autism Spectrum Disorder - A Portuguese Cohort

da Silva, Ana Manuela Veloso

2020

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Genprex Granted Patent in Singapore for Reqorsa® Gene Therapy with PD-1 Antibodies to Treat Cancers

PR Newswire, 2024

2024

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Aries Science Technology and Enveric Biosciences Announce Issuance of Key US Patent Under Aries’ License for Treatment of Radiation Dermatitis and Other Conditions

Business Wire, 2024

2024

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Genetics and Primary Care: Raising Awareness and Enhancing Cooperation

Missouri medicine, 2024-07, Vol.121 (4), p.277-283

2024

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Last Narratives: Life Writing Palliative Praxis

Literature and medicine, 2024-04, Vol.42 (1), p.157-173

Gygax, Franziska

2024

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The Accelerated Approval Program for Oncology Drugs: Celebrating More Than 250,000 Life-Years Gained and Counting

The American journal of managed care, 2024-08, Vol.30 (The American Journal of Managed Care 8), p.e223

O'Brien, John Michael

2024

Volltextzugriff (PDF)

Efficacy of Qigong Baduanjin on nutritional status and quality of life in patients on haemodialysis: study protocol for a prospective randomised controlled trial

BMJ open, 2024-08, Vol.14 (8), p.e082518

2024

Volltextzugriff (PDF)

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis

International journal of molecular sciences, 2024-08, Vol.25 (16), p.8867

2024

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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

Human genome variation, 2024-08, Vol.11 (1), p.33-4

2024

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SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.357

2024

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Cicely Saunders and the Literary and Cultural Heritage of "Total Pain"

Literature and medicine, 2024-04, Vol.42 (1), p.65-87

Wood, Joe

2024

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A Tele-detection and referral pAthways model for early childhood cariEs control- a protocol for a randomized factorial study: the TRACE study

BMC oral health, 2024-08, Vol.24 (1), p.1-10, Article 934

2024

Volltextzugriff (PDF)

Neuropsychiatric Manifestations of Tuberous Sclerosis in a young adult male in a Psychiatry Hospital in Botswana: a case report

European psychiatry, 2024-08, Vol.67 (S1), p.S495-S496

2024

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Effect of thumbtack needle on functional constipation: A pragmatic randomized controlled trial

Complementary therapies in medicine, 2024-09, Vol.84, p.103069, Article 103069

2024

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Gut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol

BMJ open gastroenterology, 2024-08, Vol.11 (1), p.e001450

2024

Volltextzugriff (PDF)

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Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Disparities in outcomes of colorectal cancer surgery among adults with intellectual and developmental disabilities

Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

“Nothing about Us without Us” Meets the “All Teach, All Learn” Model: Autistic Self-Advocates as Leaders and Collaborators in Project ECHO

Assessing Health-Related Quality of Life in Children with Spina Bifida in Lithuania

Shank3 Gene : Genotype-Phenotype Relationship in a Sample With Autism Spectrum Disorder And/or Intellectual Developmental Disability

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements

Association of Serum Extracellular Vesicle miRNAs with Cognitive Functioning and Quality of Life in Parkinson’s Disease

Application of Brain Organoids to Study Autism Spectrum Disorder - A Portuguese Cohort

Genprex Granted Patent in Singapore for Reqorsa® Gene Therapy with PD-1 Antibodies to Treat Cancers

Aries Science Technology and Enveric Biosciences Announce Issuance of Key US Patent Under Aries’ License for Treatment of Radiation Dermatitis and Other Conditions

Genetics and Primary Care: Raising Awareness and Enhancing Cooperation

Last Narratives: Life Writing Palliative Praxis

The Accelerated Approval Program for Oncology Drugs: Celebrating More Than 250,000 Life-Years Gained and Counting

Efficacy of Qigong Baduanjin on nutritional status and quality of life in patients on haemodialysis: study protocol for a prospective randomised controlled trial

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development

Cicely Saunders and the Literary and Cultural Heritage of "Total Pain"

A Tele-detection and referral pAthways model for early childhood cariEs control- a protocol for a randomized factorial study: the TRACE study

Neuropsychiatric Manifestations of Tuberous Sclerosis in a young adult male in a Psychiatry Hospital in Botswana: a case report

Effect of thumbtack needle on functional constipation: A pragmatic randomized controlled trial

Gut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol

Capivasertib and fulvestrant for patients with hormone receptor-positive, HER2-negative advanced breast cancer (CAPItello-291): patient-reported outcomes from a phase 3, randomised, double-blind, placebo-controlled trial

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