yannick-robin eike mirko
Rare Disease Daily #18: 1q Duplication
T-MINUS 272 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes 1q Duplication Syndrome as a...
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yannick-robin eike mirko
Rare Disease Daily #17: 19p13.12 Microdeletion Syndrome
T-MINUS 273 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes 19p13.12 Microdeletion...
yannick-robin eike mirko
Rare Disease Daily #16: 18 Hydroxylase Deficiency
T-MINUS 274 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes CMO 1/18 Hydroxylase...
yannick-robin eike mirko
Rare Disease Daily #15: 17q23.1q23.2 Microdeletion Syndrome
T-MINUS 279 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes 17q23.1q23.2 microdeletion...
yannick-robin eike mirko
The Importance of Naming Every Disease...Rare Disease Daily #14: 17q12 Duplication Syndrome
T-MINUS 280 DAYS UNTIL RARE DISEASE DAY Hello friends, hope you’re well. So, if you haven’t noticed already, in this program, I am going...
yannick-robin eike mirko
Rare Disease Daily #13: 17q12 Deletion Syndrome
T-MINUS 281 DAYS UNTIL RARE DISEASE DAY Hi friends, hope you’re well. What can I say, the disabilities be disabling me sometimes, which...
yannick-robin eike mirko
Rare Disease Daily #12: 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency
T-MINUS 286 DAYS UNTIL RARE DISEASE DAY I want to preface with an apology to all intersex and TGNC people that find it hard to access...
yannick-robin eike mirko
Rare Disease Daily #11: 17-alpha-hydroxylase Deficiency
T-MINUS 287 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes 17-alpha-hydroxylase...
yannick-robin eike mirko
Rare Disease Daily #10: 16q24.3 Microdeletion Syndrome
T-MINUS 288 DAYS UNTIL RARE DISEASE DAY The National Center for Advancing Translational Sciences describes 16q24.3 microdeletion syndrome...
yannick-robin eike mirko
Rare Disease Daily #9: 16p13.11 Microduplication Syndrome
T-MINUS 290 DAYS UNTIL RARE DISEASE DAY Rare Disease Daily aims to raise awareness for the community of approximately 30 million US...
yannick-robin eike mirko
Rare Disease Daily #8: 16p11.2 Duplication Syndrome
T-MINUS 293 DAYS UNTIL RARE DISEASE DAY Rare Disease Daily aims to raise awareness for the community of approximately 30 million US...
yannick-robin eike mirko
Rare Disease Daily #7: 16p11.2 Deletion Syndrome
The National Center for Advancing Translational Sciences describes 16p11.2 deletion syndrome as a condition caused by a missing piece...
yannick-robin eike mirko
Rare Disease Daily #6: 15q24 Microdeletion Syndrome
Orphanet describes 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in...
yannick-robin eike mirko
Rare Disease Daily #5: 15q13.3 Microdeletion Syndrome
The National Center for Advancing Translational Sciences describes 15q13.3 microdeletion syndrome as a genetic disorder caused by a...
yannick-robin eike mirko
Rare Disease Daily #4: 15q11.2 Microdeletion
T-MINUS 293 DAYS UNTIL RARE DISEASE DAY Rare Disease Daily aims to raise awareness for the community of approximately 30 million US...
yannick-robin eike mirko
Rare Disease Daily #3: 12q14 Microdeletion Syndrome
The National Center for Advancing Translational Sciences describes 12q14 microdeletion syndrome as a genetic syndrome caused by a missing...
yannick-robin eike mirko
Rare Disease Daily #2: 11-beta-hydroxylase Deficiency
The National Center for Advancing Translational Sciences describes 11-beta-hydroxylase deficiency as a Congenital adrenal hyperplasia...
yannick-robin eike mirko
Rare Disease Daily #1: 10q22.3q23.3 Microdeletion Syndrome
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens, made up of over 7,000 varying rare...
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