POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum (English)
- New search for: Rossi, Alessandra
- New search for: Blok, Lot Snijders
- New search for: Neuser, Sonja
- New search for: Klöckner, Chiara
- New search for: Platzer, Konrad
- New search for: Faivre, Laurence Olivier
- New search for: Weigand, Heike
- New search for: Dentici, Maria L.
- New search for: Tartaglia, Marco
- New search for: Niceta, Marcello
- New search for: Alfieri, Paolo
- New search for: Srivastava, Siddharth
- New search for: Coulter, David
- New search for: Smith, Lacey
- New search for: Vinorum, Kristin
- New search for: Cappuccio, Gerarda
- New search for: Brunetti‐Pierri, Nicola
- New search for: Torun, Deniz
- New search for: Arslan, Mutluay
- New search for: Lauridsen, Mathilde F.
- New search for: Murch, Oliver
- New search for: Irving, Rachel
- New search for: Lynch, Sally A.
- New search for: Mehta, Sarju G.
- New search for: Carmichael, Jenny
- New search for: Zonneveld‐Huijssoon, Evelien
- New search for: de Vries, Bert
- New search for: Kleefstra, Tjitske
- New search for: Johannesen, Katrine M.
- New search for: Westphall, Ian T.
- New search for: Hughes, Susan S.
- New search for: Smithson, Sarah
- New search for: Evans, Julie
- New search for: Dudding‐Byth, Tracy
- New search for: Simon, Marleen
- New search for: van Binsbergen, Ellen
- New search for: Herkert, Johanna C.
- New search for: Beunders, Gea
- New search for: Oppermann, Henry
- New search for: Bakal, Mert
- New search for: Møller, Rikke S.
- New search for: Rubboli, Guido
- New search for: Bayat, Allan
- New search for: Rossi, Alessandra
- New search for: Blok, Lot Snijders
- New search for: Neuser, Sonja
- New search for: Klöckner, Chiara
- New search for: Platzer, Konrad
- New search for: Faivre, Laurence Olivier
- New search for: Weigand, Heike
- New search for: Dentici, Maria L.
- New search for: Tartaglia, Marco
- New search for: Niceta, Marcello
- New search for: Alfieri, Paolo
- New search for: Srivastava, Siddharth
- New search for: Coulter, David
- New search for: Smith, Lacey
- New search for: Vinorum, Kristin
- New search for: Cappuccio, Gerarda
- New search for: Brunetti‐Pierri, Nicola
- New search for: Torun, Deniz
- New search for: Arslan, Mutluay
- New search for: Lauridsen, Mathilde F.
- New search for: Murch, Oliver
- New search for: Irving, Rachel
- New search for: Lynch, Sally A.
- New search for: Mehta, Sarju G.
- New search for: Carmichael, Jenny
- New search for: Zonneveld‐Huijssoon, Evelien
- New search for: de Vries, Bert
- New search for: Kleefstra, Tjitske
- New search for: Johannesen, Katrine M.
- New search for: Westphall, Ian T.
- New search for: Hughes, Susan S.
- New search for: Smithson, Sarah
- New search for: Evans, Julie
- New search for: Dudding‐Byth, Tracy
- New search for: Simon, Marleen
- New search for: van Binsbergen, Ellen
- New search for: Herkert, Johanna C.
- New search for: Beunders, Gea
- New search for: Oppermann, Henry
- New search for: Bakal, Mert
- New search for: Møller, Rikke S.
- New search for: Rubboli, Guido
- New search for: Bayat, Allan
In:
Clinical Genetics
;
104
, 2
;
186-197
;
2023
- Article (Journal) / Electronic Resource
-
Title:POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
-
Contributors:Rossi, Alessandra ( author ) / Blok, Lot Snijders ( author ) / Neuser, Sonja ( author ) / Klöckner, Chiara ( author ) / Platzer, Konrad ( author ) / Faivre, Laurence Olivier ( author ) / Weigand, Heike ( author ) / Dentici, Maria L. ( author ) / Tartaglia, Marco ( author ) / Niceta, Marcello ( author )
-
Published in:Clinical Genetics ; 104, 2 ; 186-197
-
Publisher:
- New search for: Blackwell Publishing Ltd
-
Publication date:2023-08-01
-
Size:12 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Keywords:
-
Source:
Table of contents – Volume 104, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 145
-
Issue Information| 2023
- 147
-
Genetic risk for Huntington Disease and reproductive decision‐making: A systematic reviewFahy, Neil / Rice, Charlotte / Lahiri, Nayana / Desai, Roopal / Stott, Joshua et al. | 2023
- 163
-
Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative reviewPerlman, Polina / Vorstman, Jacob / Hoang, Ny / Summers, Jane / Baribeau, Danielle / Cunningham, Jessie / Mulsant, Benoit H. et al. | 2023
- 174
-
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's diseaseStalke, Amelie / Behrendt, Annika / Hennig, Finja / Gohlke, Holger / Buhl, Nicole / Reinkens, Thea / Baumann, Ulrich / Schlegelberger, Brigitte / Illig, Thomas / Pfister, Eva‐Doreen et al. | 2023
- 186
-
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrumRossi, Alessandra / Blok, Lot Snijders / Neuser, Sonja / Klöckner, Chiara / Platzer, Konrad / Faivre, Laurence Olivier / Weigand, Heike / Dentici, Maria L. / Tartaglia, Marco / Niceta, Marcello et al. | 2023
- 198
-
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individualsMoffitt, Bridgette A. / Oberman, Lindsay M. / Beamer, Laura / Srikanth, Sujata / Jain, Lavanya / Cascio, Lauren / Jones, Kelly / Pauly, Rini / May, Melanie / Skinner, Cindy et al. | 2023
- 210
-
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programBonini, Katherine E. / Thomas‐Wilson, Amanda / Marathe, Priya N. / Sebastin, Monisha / Odgis, Jacqueline A. / Di Biase, Miranda / Kelly, Nicole R. / Ramos, Michelle A. / Insel, Beverly J. / Scarimbolo, Laura et al. | 2023
- 226
-
Compound heterozygous variants in WLS gene causes Zaki syndromeYu, Cuicui / Wang, Chunli / Zhou, Wei / Zhang, Aihua / Jia, Zhanjun / Zheng, Bixia / Ding, Guixia et al. | 2023
- 230
-
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Lecca, Mauro / Bedeschi, Maria Francesca / Izzi, Claudia / Dordoni, Chiara / Rinaldi, Berardo / Peluso, Francesca / Caraffi, Stefano Giuseppe / Prefumo, Federico / Signorelli, Marino / Zanzucchi, Matteo et al. | 2023
- 238
-
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLSZaki, Maha S. / Sharaf‐Eldin, Wessam E. / Rafat, Karima / Elbendary, Hasnaa M. / Kamel, Mona / Elkhateeb, Nour / Noureldeen, Mahmoud M. / Abdeltawab, Mohamed A. / Sadek, Abdelrahim A. / Essawi, Mona L. et al. | 2023
- 245
-
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies‐hypotonia‐seizures syndromeMartín‐Grau, Carla / Orellana Alonso, Carmen / Roselló Piera, Mónica / Pedrola Vidal, Laia / Llorens‐Salvador, Roberto / Quiroga, Ramiro / Marín Reina, Purificación / Rubio Moll, Juan Salvador / Gómez Portero, Rosa / Martínez‐Castellano, Francisco et al. | 2023
- 251
-
Revisiting TOP2B‐related phenotypes: Three new cases and literature reviewÇepni, Ece / Börklü, Esra / Avcı, Şahin / Kalaycı, Tuğba / Eraslan, Serpil / Kayserili, Hülya et al. | 2023
- 259
-
RNASEH2C c.194G>A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3Wang, Qingming / Han, Ye / Zhou, Xinlong / Cheng, ShuangXi / Wang, Xin / Chen, Xiaoli / Yuan, Haiming et al. | 2023
- 266
-
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathyNoor Ul Ayan, Hafiza / Ali, Pir Sheeraz / Korejo, Asad Aslam / Thiele, Holger / Nürnberg, Peter / Tariq, Muhammad / Jamal, Syed Zahid / Erdmann, Jeanette / Ahmad, Ilyas et al. | 2023
- 269
-
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndromePotter, Amiee B. / O'Brien, Timothy D. / Kulkarni, Arpita / McCabe, Sarah / Matthews, Kathryn / Kovak, Karen / Rogers, Caleb / Richards, C. Sue / Moore, Stephen et al. | 2023
- 272
-
Steroid‐resistant nephrotic syndrome caused by nuclear pore gene NUP133 variationWang, Qin / Gu, Rui / Li, Fu‐wei / Gu, Wei‐yue / Zhang, Jian‐jiang et al. | 2023
- 275
-
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasiaAbu Shtaya, Aasem / Sukenik‐Halevy, Rivka / Bazak, Lily / Lidzbarsky, Gabriel Arie / Gonzaga‐Jauregui, Claudia / Lagovsky, Irina / Goldberg, Yael / Basel‐Salmon, Lina et al. | 2023