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Mostrando 221 - 240 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.53s Limitar resultados
  1. 221
    “…Despite an established PHOX2B genotype and phenotype correlation, patients have variable and heterogeneous clinical manifestations requiring the formulation of an individualized plan of care based on collaboration between the pulmonologist, otolaryngologist, cardiologist, anesthesiologist, gastroenterologist, sleep medicine physician, geneticist, surgeon, oncologist, and respiratory therapist. …”
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    Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
  2. 222
    “…The neural cell adhesion protein neuroligin-4 has puzzled neuroscientists and geneticist alike for almost two decades. Its clinical association with autism spectrum disorders (ASD) is well established, however, its diversification into sex chromosome-specific copies, NLGN4X and NLGN4Y, remains uncharted territory. …”
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    Of Humans and Gerbils— Independent Diversification of Neuroligin-4 Into X- and Y-Specific Genes in Primates and Rodents
  3. 223
    “…Thirty-seven patients with PVs (66%) were evaluated by a clinical geneticist, and in 24 of them (64.9%), germline testing confirmed the presence of the PV in blood. …”
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    Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model
  4. 224
    “…The present study may assist a molecular geneticist in interpreting the variant pathogenicity in research as well as diagnostic setup.…”
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    In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene
  5. 225
    “…Targetable driver mutations and corresponding signalling pathways provide a novel precision medicine strategy.Therefore, there is a need for multi-disciplinary cooperation between a paediatrician, an oncologist, a geneticist, and a psychologist during the surveillance of families with an increased cancer risk. …”
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    Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review
  6. 226
    “…Using next generation sequencing, as a new genetic investigational tool, carries several challenges for the physician, the geneticist, and the families. Methods: In this retrospective study, we analyzed the clinical, biochemical, and genetic profile of inborn errors of metabolism suspected patients, seen at a major tertiary care center in Lebanon, between 2015 and 2018. …”
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    Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
  7. 227
    “…Then, CM patterns were reviewed in consultation with a clinical geneticist (qualitative assessment). RESULTS: ORs were not statistically significant except for belimumab and vedolizumab (similar in magnitude). …”
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    Reported congenital malformations after exposure to non‐tumour necrosis factor inhibitor biologics: A retrospective comparative study in EudraVigilance
  8. 228
    “…Non-mosaic Klinefelter syndrome (47, XXY) was diagnosed in 65% of cases (13/20) by the geneticist (including 7 cases prenatally), in 25% (5/20) by the endocrinologist and in 10% (2/20) by the hematologist. …”
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    Testicular microlithiasis in paediatric patients with Klinefelter syndrome from infancy till adolescence: early start of degenerative process in the testes—preliminary results
  9. 229
    por Kaya Başar, Ebru, Narinç, Doğan
    Publicado 2023
    “…It is important for the geneticist to know the heritability of these characteristics and their genetic relationships. …”
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    Genetic Parameter Estimates of Growth Curve and Feed Efficiency Traits in Japanese Quail
  10. 230
    “…Refer patients with confirmed MPS to a geneticist or metabolic specialist for further evaluation and treatment. …”
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    Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
  11. 231
    “…High-risk individuals participating in PDAC-surveillance were invited to annually complete a cancer worry scale (CWS) questionnaire which was sent after counseling by the clinical geneticist (T0), after intake for participation in PDAC-surveillance (T1), and then annually after every MRI and endoscopic ultrasonography (EUS) (T2 and further). …”
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    Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance
  12. 232
    “…We investigated whether the multidisciplinary team, consisting of a movement disorder specialist, pediatric neurologist, pediatrician for inborn errors of metabolism and clinical geneticist, revised the movement disorder classification, etiological diagnosis, and/or treatment. …”
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    Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders
  13. 233
    “…So consultation with a clinical geneticist is crucial to choose the best available approach. …”
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    Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series
  14. 234
    “…Conclusions: We recommend defining overweight as body mass index (BMI) in at least the 85th percentile but < the 95th percentile and obesity as BMI in at least the 95th percentile against routine endocrine studies unless the height velocity is attenuated or inappropriate for the family background or stage of puberty; referring patients to a geneticist if there is evidence of a genetic syndrome; evaluating for obesity-associated comorbidities in children with BMI in at least the 85th percentile; and prescribing and supporting intensive lifestyle (dietary, physical activity, and behavioral) modification as the prerequisite for any treatment. …”
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    Prevention and Treatment of Pediatric Obesity: An Endocrine Society Clinical Practice Guideline Based on Expert Opinion
  15. 235
    “…METHODS: IAR of FPC families underwent comprehensive counseling by a geneticist and pancreatologist prior to the proposed screening. …”
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    German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program
  16. 236
    “…No selection criteria were used other than referral from a suitable medical specialist (e.g., neurologist or clinical geneticist). Patients were classified into 15 clinical categories based on the clinical diagnosis from the referring clinician. …”
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    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
  17. 237
    “…She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. …”
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    CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation
  18. 238
    “…It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%) (P < 0.001). …”
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    ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients
  19. 239
    “…Based on their clinical significance, Periodontists and Geneticist experts selected 11 CF-rules, and 5 CF+DEG-rules. …”
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    Using association rule mining to jointly detect clinical features and differentially expressed genes related to chronic inflammatory diseases
  20. 240
    “…CanVIG-UK was established in 2017 and now has >100 UK members, including at least one clinical diagnostic scientist and one clinical cancer geneticist from each of the 25 regional molecular genetics laboratories of the UK and Ireland. …”
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    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
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