Split-hand/foot malformation - molecular cause and implications in genetic counseling

por Sowińska-Seidler, Anna, Socha, Magdalena, Jamsheer, Aleksander
Publicado 2013

Prospective registration trends, reasons for retrospective registration and mechanisms to increase prospective registration compliance: descriptive analysis and survey

por Hunter, Kylie Elizabeth, Seidler, Anna Lene, Askie, Lisa M
Publicado 2018

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Wierzba, Jolanta, Jamsheer, Aleksander
Publicado 2022

Health utilities for chronic low back pain

por Seidler, Anna Lene, Rethberg, Constanze, Schmitt, Jochen, Nienhaus, Albert, Seidler, Andreas
Publicado 2017

Is the Whole More Than the Sum of Its Parts? Health Effects of Different Types of Traffic Noise Combined

por Seidler, Andreas, Hegewald, Janice, Seidler, Anna Lene, Schubert, Melanie, Zeeb, Hajo
Publicado 2019

Associations between industry involvement and study characteristics at the time of trial registration in biomedical research

por Seidler, Anna Lene, Hunter, Kylie E., Chartres, Nicholas, Askie, Lisa M.
Publicado 2019

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

por Sowińska-Seidler, Anna, Socha, Magdalena, Szoszkiewicz, Anna, Materna-Kiryluk, Anna, Jamsheer, Aleksander
Publicado 2023

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

The Complex Quest of Preventing Obesity in Early Childhood: Describing Challenges and Solutions Through Collaboration and Innovation

por Seidler, Anna Lene, Johnson, Brittany J., Golley, Rebecca K., Hunter, Kylie E.
Publicado 2022

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

por Jamsheer, Aleksander, Socha, Magdalena, Sowińska-Seidler, Anna, Telega, Kinga, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Publicado 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

por Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander
Publicado 2014

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

por Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert
Publicado 2022

Mimicking acute airway tissue damage using femtosecond laser nanosurgery in airway organoids

por Gentemann, Lara, Donath, Sören, Seidler, Anna E., Patyk, Lara, Buettner, Manuela, Heisterkamp, Alexander, Kalies, Stefan
Publicado 2023

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
Publicado 2020

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

por Rojek, Aleksandra, Krawczynski, Maciej R., Jamsheer, Aleksander, Sowinska-Seidler, Anna, Iwaniszewska, Barbara, Malunowicz, Ewa, Niedziela, Marek
Publicado 2016

A Review of Registered Randomized Controlled Trials for the Prevention of Obesity in Infancy

por Mihrshahi, Seema, Jawad, Danielle, Richards, Louise, Hunter, Kylie E., Ekambareshwar, Mahalakshmi, Seidler, Anna Lene, Baur, Louise A.
Publicado 2021

Diagnostic Accuracy of Infection Markers to Diagnose Infections in Neonates and Children Receiving Extracorporeal Membrane Oxygenation

por Doo, Irene, Staub, Lukas P., Mattke, Adrian, Haisz, Emma, Seidler, Anna Lene, Alphonso, Nelson, Schlapbach, Luregn J.
Publicado 2022

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature

por Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Niedziela, Marek, Sowińska-Seidler, Anna, Sztromwasser, Paweł, Jamsheer, Aleksander, Obara-Moszyńska, Monika
Publicado 2022

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

por Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander
Publicado 2020