Karin Writzl: search on Z-Library

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1

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Coban Akdemir, Zeynep, Gelowani, Violet, Writzl, Karin, B

Journal:

Year:

2017

Language:

english

File:

PDF, 859 KB

english, 2017

2

Multiplede novocopy number variations in two subjects with developmental problems and multiple congenital anomalies

Pengfei Liu, Klaudia Walter, Karin Writzl, Violet Gelowani…

Journal:

BMC Proceedings

Year:

2012

Language:

english

File:

PDF, 84 KB

english, 2012

3

Genital anomalies in a patient with Treacher Collins syndrome

Dr. Karin Writzl, Jera Jeruc, Michael Oldridge, Borut Peterlin, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

4

Interstitial deletion 2p11.2–p12: Further delineation

Karin Writzl, Luca Lovrečić, Borut Peterlin

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

5

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

Elisa Fermo, Paola Bianchi, Laurent R. Chiarelli, Frederic Cotton, Cristina Vercellati, Karin Writzl, Kerry Baker, Ian Hann, Robin Rodwell, Giovanna Valentini, Alberto Zanella

Journal:

British Journal of Haematology

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

6

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )

Wambach, Jennifer A., Stettner, Georg M., Haack, Tobias B., Writzl, Karin, Škofljanec, Andreja, Maver, Aleš, Munell, Francina, Ossowski, Stephan, Bosio, Mattia, Wegner, Daniel J., Shinawi, Marwan, Bal

Journal:

Year:

2017

Language:

english

File:

PDF, 1.37 MB

english, 2017

7

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

Writzl, Karin, Knegt, Alida C.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 125 KB

english, 2013

8

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

Karin Writzl, Zvonka Rener Primec, Barbara Gnidovec Stražišar, Damjan Osredkar, Nuška Pečarič-Meglič, Branka Stirn Kranjc, Kiyomi Nishiyama, Naomichi Matsumoto, Hirotomo Saitsu

Journal:

Year:

2012

Language:

english

File:

PDF, 452 KB

english, 2012

9

SATB2haploinsufficiency in patients with cleft palate

Karin Writzl, Luca Lovrečić, Ján Vojtaššák, Borut Peterlin, Eurocran Gene-Environment Interaction Group

Journal:

Central European Journal of Medicine

Year:

2010

Language:

english

File:

PDF, 1.21 MB

english, 2010

10

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

Battelino, Nina, Writzl, Karin, Bratanič, Nevenka, Irving, Melita D, Novljan, Gregor

Journal:

Therapeutic Apheresis and Dialysis

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

11

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Writzl, Karin, Maver, Ales, Kovačič, Lidija, Martinez-Valero, Paula, Contreras, Laura, Satrustegui, Jorgina, Castori, Marco, Faivre, Laurence, Lapunzina, Pablo, van Kuilenburg, André B.P., Radović, Sl

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 3.18 MB

english, 2017

12

Recurrent Fulminant Myocarditis Repeatedly Treated with Ecmo in a Child

Vercek, Gregor, Markelj, Gasper, Mlakar, Gorazd, Primec, Zvonka, Bertok, Sara, Writzl, Karin, Stefanija, Magdalena, Bajic, Stevan, Vesel, Samo, Ihan, Alojz, Stritar, Albin, Pokorn, Marko, Kovac, Jerne

Journal:

Klinische Pädiatrie

Year:

2019

File:

PDF, 475 KB

2019

13

Immunological abnormalities in CHARGE syndrome

Karin Writzl, Catherine M. Cale, Christine M. Pierce, Louise C. Wilson, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 112 KB

english, 2007

14

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1

Lindy, Amanda S., Basehore, Monica J., Munisha, Mumingjiang, Williams, Aimee Leanne, Friez, Michael J., Writzl, Karin, Willems, Patrick, Dougan, Scott T.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.95 MB

english, 2016

15

Co-occurrence of rhabdomyosarcoma and Mowat–Wilson syndrome

Rogac, Mihael, Kitanovski, Lidija, Writzl, Karin

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 101 KB

english, 2017

16

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

Karin Writzl, Jan Hoovers, Erik A. Sistermans, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 117 KB

english, 2007

17

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

Ales, Maver, Luca, Lovrecic, Marija, Volk, Gorazd, Rudolf, Karin, Writzl, Ana, Blatnik, Alenka, Hodzic, Peterlin, Borut

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 2.14 MB

english, 2016

18

Clinical utility of array comparative genomic hybridisation in prenatal setting

Lovrecic, Luca, Remec, Ziga Iztok, Volk, Marija, Rudolf, Gorazd, Writzl, Karin, Peterlin, Borut

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 481 KB

english, 2016

19

Copy number of DAZ genes in infertile men

Karin Writzl, Branko Zorn, Borut Peterlin

Journal:

Fertility and Sterility

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

20

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations

Stražišar, Barbara Gnidovec, Neubauer, David, Paro Panjan, Darja, Writzl, Karin

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

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