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1 . Academic Journal
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
저자
by
Pfeifer, Mateja
;
Rehder, Helga
;
Gerykova Bujalkova, Maria
;
Bartsch, Christine
;
Fritz, Barbara
, et al.
소스
Orphanet Journal of Rare Diseases
. 3/12/2024, Vol. 19 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
저자
by
Boer, Lucas L.
;
Kircher, Susanne Gerit
;
Rehder, Helga
;
Behunova, Jana
;
Winter, Eduard
, et al.
소스
American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1301-1324, 24p
Web of Science
Scopus
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7 . Academic Journal
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
저자
by
Rehder, Helga
;
Kircher, Susanne G.
;
Schoner, Katharina
;
Smogavec, Mateja
;
Behunova, Jana
, et al.
소스
Orphanet Journal of Rare Diseases
. 3/16/2023, Vol. 18 Issue 1, p1-14. 14p.
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
저자
by
Stürznickel, Julian
;
Jähn‐Rickert, Katharina
;
Zustin, Jozef
;
Hennig, Floriane
;
Delsmann, Maximilian M.
, et al.
소스
Journal of Bone & Mineral Research; Jun2021, Vol. 36 Issue 6, p1077-1087, 11p
Full Text (OUP)
Web of Science
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7 . Academic Journal
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
저자
by
Neuser, Sonja
;
Krey, Ilona
;
Schwan, Annemarie
;
Abou Jamra, Rami
;
Bartolomaeus, Tobias
, et al.
소스
European Journal of Human Genetics
. 30(1):101-110
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7 . Periodical
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
저자
by
Neuser, Sonja
;
Krey, Ilona
;
Schwan, Annemarie
;
Abou Jamra, Rami
;
Bartolomaeus, Tobias
, et al.
소스
European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-10, 10p
Web of Science
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7 . Academic Journal
Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern.
저자
by
Schoner, Katharina
;
Witsch‐Baumgartner, Martina
;
Behunova, Jana
;
Petrovic, Robert
;
Bald, Rainer
, et al.
소스
Birth Defects Research; Jan2020, Vol. 112 Issue 2, p175-185, 11p
Web of Science
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7 . Academic Journal
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
저자
by
Behunova, Jana
;
Gerykova Bujalkova, Maria
;
Gras, Gabriel
;
Taylor, Thomas
;
Ihm, Ulrike
, et al.
소스
Molecular Syndromology; Nov2018, Vol. 9 Issue 6, p287-294, 8p
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7 . Academic Journal
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.
저자
by
Rehder, Helga
;
Laccone, Franco
;
Kircher, Susanne G.
;
Schild, Ralf L.
;
Rapp, Christiane
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2018, Vol. 176 Issue 7, p1559-1568, 10p
Web of Science
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7 . Academic Journal
Fetalpathologie der Neuralrohrdefekte - ein Überblick über 68 NTD-Fälle. (German)
저자
by
Schoner, Katharina
;
Axt-Fliedner, Roland
;
Bald, Rainer
;
Fritz, Barbara
;
Kohlhase, Juergen
, et al.
소스
Geburtshilfe und Frauenheilkunde; 2017, Vol. 77 Issue 12, p495-507, 26p
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