Search for tag: "mutations"

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Cystic Fibrosis Past, Present and Future \| Dr.… duration 54 minutes 54 seconds Cystic Fibrosis Past, Present and Future \| Dr.… Cystic Fibrosis Past, Present and Future \| Dr. Linda Pedder \| 24 Februrary, 2022	Cystic Fibrosis Past, Present and Future \| Dr. Linda Pedder \| 24 Februrary, 2022 Dr. Linda Pedder is an Associate Professor within the Department of Pediatrics, Division Head of Pediatric Respirology and Director of the Pediatric Cystic Fibrosis (CF) clinic at McMaster… mcmaster university mcmaster children's hospital pediatrics cystic fibrosis research history diagnosis child youth risk pancreas lungs infants testing assessment duodenal trypsin canadian cf registry potentiators correctors cure treatment dr. dorothy anderson trials studies worldwide patients slide improvement percent function kids drug modulators population mutations disease protein lot patient fev1 study months sweat enzymes 1950s From Cassandra Russ 97 plays 0
Rare Disease Genes as Windows to Understanding… duration 47 minutes 32 seconds Rare Disease Genes as Windows to Understanding… Rare Disease Genes as Windows to Understanding Immune Function \| Hal Hoffman \| October 2021	Rare Disease Genes as Windows to Understanding Immune Function \| Hal Hoffman \| October 2021 The 2021 Annual Abe Shore Lecture in Rheumatology was delivered by Dr. Hal Hoffman of the University of California Sandiego (UCSD). Dr. Hoffman is a Professor of Pediatrics and Medicine at UCSD;… pediatrics rheumatology medicine immune function allergy children mcmaster abe shore patients disease diseases lot things gene sort rash protein inflammation mutations nlrp3 disorders kid bit genes cell beta cells dna From Cheryl Crocker 20 plays 0
Painless Visual Loss in a Teenager - I Bet it is… duration 45 minutes 1 second Painless Visual Loss in a Teenager - I Bet it is… Painless Visual Loss in a Teenager - I Bet it is Leber Hereditary Optic Neuropathy(LHON) \| August 5, 2021	Painless Visual Loss in a Teenager - I Bet it is Leber Hereditary Optic Neuropathy(LHON) \| August 5, 2021 Dr. Mark Tarnopolsky is a Professor and Division Head of Neuromuscular and Neurometabolic Disorders in the Department of Pediatrics at McMaster University. He discusses painless visual loss in a… disease optic dna leavers loss mutation patients cases mutations things cocktail sequencing point neuropathy minute history bit diagnosis disorders labor From Tiffany Anderson 45 plays 0
Genetic Arteriopathies and Paediatric Stroke, Dr… duration 42 minutes 10 seconds Genetic Arteriopathies and Paediatric Stroke, Dr… Genetic Arteriopathies and Paediatric Stroke, Dr Nomazulu Dlamini, June 25, 2021	Genetic Arteriopathies and Paediatric Stroke, Dr Nomazulu Dlamini, June 25, 2021 stroke children sort phenotype mutation condition risk calcification child mri disorders conditions vessels injury genetics disease involvement mutations diagnosis weeks From Robyn Whitney 79 plays 0
Cancer – it’s all in the genes \|… duration 1 hour 0 minutes Cancer – it’s all in the genes \|… Cancer – it’s all in the genes \| February 4, 2021	Cancer – it’s all in the genes \| February 4, 2021 Dr. Carol Portwine is a Professor and Division Chief in the Division of Hematology/Oncology, Department of Pediatrics, McMaster University. She will discuss cancer genetics and cancer genetic… department of pediatrics grand rounds cancer genetics genetic syndromes cell cells tumor dna genes genome mutation mutations p53 effects predisposition body side individuals bit blood lot children syndromes From Giulia Spadafora 31 plays 0