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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2009 | 1 |
2018 | 1 |
2022 | 1 |
2024 | 0 |
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Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006170. doi: 10.1101/mcs.a006170. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35091507
Free PMC article.
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN.
Polonis K, et al.
Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002899. doi: 10.1101/mcs.a002899. Print 2018 Aug.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 29802153
Free PMC article.
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Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.
Giżewska M, Hnatyszyn G, Sagan L, Cyryłowski L, Zekanowski C, Modrzejewska M, Nestorowicz B, Kubalska J, Walczak M.
Giżewska M, et al.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S83-9. doi: 10.1007/s10545-009-1073-4. Epub 2009 Mar 30.
J Inherit Metab Dis. 2009.
PMID: 19322676
The first child was born in the 31st week of pregnancy with the symptoms of moderate intrauterine growth retardation (IUGR) and brain malformation in the form of right sided closed-lip schizencephaly with absence of septum pellucidum. ...
The first child was born in the 31st week of pregnancy with the symptoms of moderate intrauterine growth retardation …
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