Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
JH Na, S Shin, D Yang, B Kim, HD Kim, S Kim… - Brain and …, 2020 - Elsevier
… n = 22) (C) Neonatal-onset DEE (seizure onset ≤ 1 month, n = 30). … (C) Gene panel result of
neonatal-onset DEE (seizure onset < 1 … 1G>C X-linked dominant mental retardation, 300422 …
neonatal-onset DEE (seizure onset < 1 … 1G>C X-linked dominant mental retardation, 300422 …
A novel homozygous frameshift WDR81 mutation associated with microlissencephaly, corpus callosum agenesis, and pontocerebellar hypoplasia
…, A Máté, M Zombor, C Bereczki… - Journal of Pediatric …, 2021 - thieme-connect.com
… superfamily) domain, and six C-terminal WD40 repeats (WD40 β … [10] [11] In Patient 2,
the c.4668_4669delAG mutation … with loss of the six C-terminal WD40 repeats and the sixth …
the c.4668_4669delAG mutation … with loss of the six C-terminal WD40 repeats and the sixth …
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
… The variant at c.686-12 leads to the splice site gain at the position c.686-11 and the inclusion
of … 84G>A in intron 6 is recurrent, detected in the affected families, and thought to affect the …
of … 84G>A in intron 6 is recurrent, detected in the affected families, and thought to affect the …
Enroute sustainability: metal free C–H bond functionalisation
… ipso) bond (path b) provided the intermediates 84e and 84g, respectively. Intermediate
84e afforded the desired phenanthridinone 84f by proton abstraction. On the other hand, the …
84e afforded the desired phenanthridinone 84f by proton abstraction. On the other hand, the …
[HTML][HTML] Seagrass blue carbon stocks and sequestration rates in the Colombian Caribbean
…, J González-Corredor, C Salinas… - Scientific Reports, 2021 - nature.com
… contribution of seagrass-C org and allochthonous-C org sources to the soil C org pool, and
… ) in Colombian seagrass meadows is higher than in the Dutch Caribbean (84 g C org m −2 …
… ) in Colombian seagrass meadows is higher than in the Dutch Caribbean (84 g C org m −2 …
[PDF][PDF] Problems to think about
… It is a classical result for a curve C with g(C) ≥ 2 that Aut(C) is finite, and in fact is bounded
by 84(g(C)−1). This was later generalized (using techniques from the MMP) to a statement for …
by 84(g(C)−1). This was later generalized (using techniques from the MMP) to a statement for …
Single Loci and Haplotypes in and Genes are Associated with Growth, Biometrics, and Carcass Traits in Santa Inês Sheep
… Biosoft, Palo Alto, CA, USA) was used to test the quality of the sequences based on rating
>90%, the melting temperature (Tm) of the sense and anti-sense primers varying only ±1C, …
>90%, the melting temperature (Tm) of the sense and anti-sense primers varying only ±1C, …
Efficient Search for Superspecial Hyperelliptic Curves of Genus Four with Automorphism Group Containing
M Kudo, T Nakagawa, T Takagi - Mathematics in Computer Science, 2023 - Springer
… In the case where C is hyperelliptic, we have a well-known explicit formula (Lemma 2.2.2 …
matrix of C, and so recall it here. As in the previous subsection, assume that C is a hyperelliptic …
matrix of C, and so recall it here. As in the previous subsection, assume that C is a hyperelliptic …
Thermochemical stabilities of giant fullerenes using density functional tight binding theory and isodesmic‐type reactions
… (24 isomers), (C 2 )C 90 , (D 2 )C 96 and C 180 , DFTB heats of formation are compared
against DSD-PBEPBE/cc-pVQZ reference values. For giant fullerenes (I h )C 240 , (I h )C 320 , …
against DSD-PBEPBE/cc-pVQZ reference values. For giant fullerenes (I h )C 240 , (I h )C 320 , …
Growth Comparison Dan Survival Rate of Catfish (Clarias SP.) with Different Feed
NPP WIJAYANTI, DAA PEBRIANI - Majalah Ilmiah Peternakan - neliti.com
… , perlakuan B (pemberian tubifex), perlakuan C (pemberian jentik nyamuk), dan perlakuan D
… 89 g, selanjutnya pada perlakuan D yaitu 0,84 g, perlakuan C yaitu 0,42 g, dan perlakuan A …
… 89 g, selanjutnya pada perlakuan D yaitu 0,84 g, perlakuan C yaitu 0,42 g, dan perlakuan A …