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/vufind/Search/Results?lookfor=%22Rojnueangnit%2C+Kitiwan%22&type=Person&sort=year
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PubPharm (42)
1
Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent : a case illustration and review of literature
enthalten in:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
| 2024
von
Yindeedej, V.
|
Rojnueangnit, K.
|
Chotsakulthong, P.
| +1
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2
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome : Case Report
enthalten in:
The application of clinical genetics
| 2023
von
Rojananuangnit, K.
|
Rojnueangnit, K.
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3
Genetic diagnosis for adult patients at a genetic clinic
enthalten in:
Cold Spring Harbor molecular case studies
| 2022
von
Rojnueangnit, K.
|
Anthanont, P.
|
Khetkham, T.
| +2
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4
Acute Intermittent Porphyria : Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
enthalten in:
The American journal of case reports
| 2022
von
Sriprakoon, V.
|
Ittagornpunth, C.
|
Puapaiboon, N.
| +4
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5
A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Rojnueangnit, K.
|
Phawan, T.
|
Khetkham, T.
| +2
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6
A novel DLL4 mutation in Adams–Oliver syndrome with absence of the right pulmonary artery in newborn
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2022
von
Rojnueangnit, K.
|
Phawan, T.
|
Khetkham, T.
| +2
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7
Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Srisraluang, W.
|
Rojnueangnit, K.
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8
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
enthalten in:
Clinical genetics
| 2021
von
Kamolvisit, W.
|
Phowthongkum, P.
|
Boonsimma, P.
| +15
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9
Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years
enthalten in:
Journal of pediatric genetics
| 2021
von
Boontan, N.
|
Rojnueangnit, K.
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10
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant
enthalten in:
International journal of neonatal screening
| 2021
von
Sriwattanapong, K.
|
Rojnueangnit, K.
|
Theerapanon, T.
| +3
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Medienart
42
Aufsätze
37
E-Artikel
37
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5
Gedruckte Aufsätze
Zeitschriftentitel
7
American journal of medical genetics. Part A
4
Journal of community genetics
4
Pediatric cardiology
3
American Journal of Medical Genetics Part C: Se...
3
BMC medical genetics
2
Human mutation
2
Journal of pediatric genetics
1
Child's nervous system : ChNS : official journa...
1
Clinical case reports
1
Clinical dysmorphology
1
Clinical genetics
1
Cold Spring Harbor molecular case studies
1
European journal of medical genetics
1
Experimental and therapeutic medicine
1
Frontiers in genetics
1
International journal of neonatal screening
1
Journal of the Medical Association of Thailand ...
1
Molecular Genetics & Genomic Medicine
1
Molecular genetics & genomic medicine
1
Scientific reports
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Thema
23
Journal Article
11
Case Reports
7
Research Support, Non-U.S. Gov't
4
Children with Down syndrome
4
Comprehensive care
4
Health supervision
4
Mutations
4
Pediatric
4
Primary cardiomyopathy
4
Quality of life
4
Whole exome sequencing
3
Acid alpha glucosidase
3
Down syndrome
3
Glycogen storage disease type II
3
Lysosomal strorage disorder
3
Pompe disease
2
Face2Gene
2
Legius syndrome
2
NF1
2
Thailändisch
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Erscheinungszeitraum
19
2020-
23
2010-2019
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Sprache
38
Englisch
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