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Kim, Soo Yeon
41356  Ergebnisse:
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1

Clinical and Genetic Spectrum of Tubulinopathy: A Single-Ce..:

Son, Hey-Joon ; Kim, Minhye ; Kim, Hye Jin...
Annals of Child Neurology.  32 (2024)  2 - p. 115-121 , 2024
Link: https://doi.org/10.26815..
 
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2

Unraveling the diagnostic odyssey: stimulator of interferon..:

Kim, Hae Ryung ; Lim, Seon Hee ; Park, Ji Soo...
Journal of Rheumatic Diseases.  31 (2024)  3 - p. 182-187 , 2024
Link: https://doi.org/10.4078/..
 
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3

SYNGAP1‐related developmental and epileptic encephalopathy:..:

Kim, Hye Jin ; Kim, Minhye ; Jang, Seoyun...
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Blood transcriptomic markers associated with immune abnorma..:

Park, Sang-Min ; Ban, Hyo-Jeong ; Lee, Minsung...
Genes & Diseases.  11 (2024)  6 - p. 101105 , 2024
Link: https://doi.org/10.1016/..
 
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5

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Recurrent fever of unknown origin and unexplained bacteremi..:

Lee, Cho-Rong ; Kim, Man Jin ; Park, Sang-Heon...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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7

Predicting the Outcome of Pediatric Oral Food Challenges fo..:

Kim, Hamin ; Jeong, Kyunguk ; Park, Mireu...
Allergy, Asthma & Immunology Research.  16 (2024)  2 - p. 179 , 2024
Link: https://doi.org/10.4168/..
 
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8

Severe Neurological Manifestation Associated With Coronavir..:

Kim, Minhye ; Choi, Younghun ; Kim, Soo Yeon...
Pediatric Neurology.  156 (2024)  - p. 17-25 , 2024
Link: https://doi.org/10.1016/..
 
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9

Expanding association between BICD2 variants and brain malf..:

Cho, Jaeso ; Kim, Haeryung ; Lee, Seoungbok...
Clinical and Experimental Pediatrics.  67 (2024)  1 - p. 54-56 , 2024
Link: https://doi.org/10.3345/..
 
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10

De novo missense variants in HDAC3 leading to epigenetic ma..:

Yoon, Jihoon G. ; Lim, Seong-Kyun ; Seo, Hoseok...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1588-1604 , 2024
Link: https://doi.org/10.1016/..
 
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11

Oligohydramnios affects pulmonary functional/structural abn..:

Shin, Jeong Eun ; Lee, Soon Min ; Lee, Mi-Jung...
Clinical and Experimental Pediatrics.  67 (2024)  5 - p. 257-266 , 2024
Link: https://doi.org/10.3345/..
 
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12

A Narrative Review of Chondrocalcinosis: Clinical Presentat..:

Kim, Soo Yeon ; Afroz, Sana ; Gillespie, Heather.
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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13

Exploring the Clinical Utility of Targeted MECP2 Testing in..:

Kim, Soo Yeon ; Woo, Hyewon ; Lim, Byung Chan..
Pediatric Neurology.  161 (2024)  - p. 28-33 , 2024
Link: https://doi.org/10.1016/..
 
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14

Characterizing Families of Pediatric Patients with Rare Dis..:

Cho, Jaeso ; Joo, Young Shin ; Yoon, Jihoon G....
Annals of Child Neurology.  32 (2024)  3 - p. 167-175 , 2024
Link: https://doi.org/10.26815..
 
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15

Psychosocial barriers and facilitators for cascade genetic ..:

Afaya, Agani ; Kim, Sung-Won ; Park, Hyung Seok...
Familial Cancer.  23 (2024)  2 - p. 121-132 , 2024
Link: https://doi.org/10.1007/..
 
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