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Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroo..

RT Journal
T1 <Title>Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10160152&Exemplar=1&LAN=DE
				
A1 Cali, Elisa
A1 Suri, Mohnish
A1 Scala, Marcello
A1 Ferla, Matteo P
A1 Alavi, Shahryar
A1 Faqeih, Eissa Ali
A1 Bijlsma, Emilia K
A1 Wigby, Kristen M
A1 Baralle, Diana
A1 Mehrjardi, Mohammad YV
A1 Schwab, Jennifer
A1 Platzer, Konrad
A1 Steindl, Katharina
A1 Hashem, Mais
A1 Jones, Marilyn
A1 Niyazov, Dmitriy M
A1 Jacober, Jennifer
A1 Littlejohn, Rebecca Okashah
A1 Weis, Denisa
A1 Zadeh, Neda
A1 Rodan, Lance
A1 Goldenberg, Alice
A1 Lecoquierre, François
A1 Dutra-Clarke, Marina
A1 Horvath, Gabriella
A1 Young, Dana
A1 Orenstein, Naama
A1 Bawazeer, Shahad
A1 Vulto-van Silfhout, Anneke T
A1 Herenger, Yvan
A1 Dehghani, Mohammadreza
A1 Seyedhassani, Seyed Mohammad
A1 Bahreini, Amir
A1 Nasab, Mahya E
A1 Ercan-Sencicek, A Gulhan
A1 Firoozfar, Zahra
A1 Movahedinia, Mojtaba
A1 Efthymiou, Stephanie
A1 Striano, Pasquale
A1 Karimiani, Ehsan Ghayoor
A1 Salpietro, Vincenzo
A1 Taylor, Jenny C
A1 Redman, Melody
A1 Stegmann, Alexander PA
A1 Laner, Andreas
A1 Abdel-Salam, Ghada
A1 Li, Megan
A1 Bengala, Mario
A1 Müller, Amelie Johanna
A1 Digilio, Maria C
A1 Rauch, Anita
A1 Gunel, Murat
A1 Titheradge, Hannah
A1 Schweitzer, Daniela N
A1 Kraus, Alison
A1 Valenzuela, Irene
A1 McLean, Scott D
A1 Phornphutkul, Chanika
A1 Salih, Mustafa
A1 Begtrup, Amber
A1 Schnur, Rhonda E
A1 Torti, Erin
A1 Haack, Tobias B
A1 Prada, Carlos E
A1 Alkuraya, Fowzan S
A1 Houlden, Henry
A1 Maroofian, Reza
PB Elsevier BV
YR 2022
K1 Chromatinopathy
K1 Mendelian disorders of the epigenetic machinery
K1 PRMT7
K1 Syndromic neurodevelopmental disorder
K1 Syndromic obesity
JF https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
SF ELIB - SuUB Bremen

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