Top Tweets for #Microdeletion
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#microdeletion #raregeneticdisorder #raregeneticvariant #cardiffuniversity #duplication #genes #genetics #genomics
Gypsy Rose is LYING about the health of her baby 🍼
#GypsyRoseBlanchard #microdeletion #liar #baby
https://t.co/0q8Xq1ZQTX
The coexistence of abnormal #seminogram and Yq #microdeletion synergistically affects #infertility. Find more details about frequency of distribution of Yq #microdeletion in abnormal #semen parametric among 78 #infertility cases.
https://t.co/CgXIrBT61v
#NJCA
#MedTwitter
I'd say Gypsy Rose's FAKE ASS Munchausen's is probably at the top at the moment. #microdeletion
#gypsryrose #liar
What is the strangest medical mystery case you have ever heard of?
Clinical characterization of a patient with CNOT2 haploinsufficiency, major gene of the #chromosome 12q15 #microdeletion.
https://t.co/rBQFrk2dw1
🔎 Do you know someone living with 3q27.3q29 #microdeletion who would like to connect with another family affected by this #raredisease?
+INFO 👉https://t.co/w50nlM2QJK
#BreakTheIsolation
Rare disease are an unmet need in neurology and working on them can reveal fundamental lessons for other more common neurological diseases. @AANMember @NINDSDiversity @NINDSfunding #microdeletion #orphan #CNV #2q37 #16p112 @sblizarraga @eslevine24
February 28 is #RareDiseaseDay. Join us in supporting those affected by diseases such as #desmoid tumors, #NF, and rare cancers. At SpringWorks, our mission is to help these patients live longer, better lives.
https://t.co/SKCpYqZzOz
Publication alert.
Our latest paper reviews the neurological manifestations of #22q11.2 deletion syndrome which is one the most common #microdeletion #syndromes.
#epilepsy, #genetics, #parkinsonism, #movementdisorders #polymicrogyria
https://t.co/t4hwQzyaj5
Latest findings by Wegscheid et al. identify a causative gene within the NF1-TGD locus responsible for hCO neuronal abnormalities and autism in children with neurofibromatosis type 1. https://t.co/6Mt7IM57Bl #CRLF3 @cytoskeleton #autism #stemcells #microdeletion #neurons
#22q11.2 deletion syndrome (#DiGeorgiSyndrome) is the most common #microdeletion in humans. Do you know which #epilepsy or #seizure type is more common in adults ?
#NeuroTwitter @uoftneurons @CLENeurons @Neurology_JC @MayoFL_NeuroRes @YaleNeurons
@neurores_ucsf @neelmed
#Network Effects of the 15q13.3 #Microdeletion on the #Transcriptome and #Epigenome in Human-Induced #Neurons
https://t.co/3WB20aLAb4
1/3 I am excited to share our work on the skeletal phenotype associated w/ 1q24.3 #microdeletion #syndrome and the role of #non_coding_RNAs. We were fortunate to collaborate with the @McAlinden_lab to accomplish this project.
https://t.co/qUSX32OyWh
And on those days you have breakthroughs, those times when the hard work pays off and success is yours to cherish, I see you then too, and I'm proud of you!
Which ever day today is, you're worthy, you're good and I see you
xXx #specialneeds #ADHD #microdeletion
OBS: Ny diagnose i Sjældne-netværket! Ny gruppe for den ultra sjældne diagnose #2q33.1 #microdeletion syndrom, også kaldet #Monosomi 2q33.1 eller #SATB2 ass.syndrom. Sjældne-netværket handler om at finde hinanden - https://t.co/NKupoY8ynb #sjældnesygdomme #sundpol
This week marks #chromosomedisorderawarenessweek @Unique_charity my child has 16p.11.13 #microdeletion she’s a little #firecracker and #unique for sure. #Letstalkchromosomes 🧬 #awareness
What is the role of non-coding variants in #autism? In a child with a #microdeletion of 14q21 the deletion removes a long non-coding rna leading to reduced expression of a neuronal protein, potentially explaining the phenotype.
https://t.co/VLNh6Om6UX
We’ve had lots of ups, downs and germs but it does give me time to think how hard it is for my son. To not be able to say he has a headache or he feels unwell must be frustrating. To not understand what medicine is and why you have to take It. My brave soldier. #microdeletion
After this week, I have decided that it should no longer be ‘I have a child with special needs’ It should be I am a parent with ‘extra special patience’. I think it’s more accurate. #unique #microdeletion #extraspecialpatienceawarenessday
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