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Novel DNMT3A germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome
by
Xin, B.
,
Cruz Marino, T.
,
Szekely, J.
,
Leblanc, J.
,
Cechner, K.
,
Sency, V.
,
Wensel, C.
,
Barabas, M.
,
Therriault, V.
,
Wang, H.
Published in
Clinical genetics
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Early growth and development impairments in patients with ganglioside GM3 synthase deficiency
by
Wang, H.
,
Wang, A.
,
Wang, D.
,
Bright, A.
,
Sency, V.
,
Zhou, A.
,
Xin, B.
Published in
Clinical genetics
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual di...
by
Liu, Zhigang
,
Xin, Baozhong
,
Smith, Iris N
,
Sency, Valerie
,
Szekely, Julia
,
Alkelai, Anna
,
Shuldiner, Alan
,
Efthymiou, Stephanie
,
Rajabi, Farrah
,
Coury, Stephanie
,
Brownstein, Catherine A
,
Rudnik-Schöneborn, Sabine
,
Bruel, Ange-Line
,
Thevenon, Julien
,
Zeidler, Shimriet
,
Jayakar, Parul
,
Schmidt, Axel
,
Cremer, Kirsten
,
Engels, Hartmut
,
Peters, Sophia O
,
Zaki, Maha S
,
Duan, Ruizhi
,
Zhu, Changlian
,
Xu, Yiran
,
Gao, Chao
,
Sepulveda-Morales, Tania
,
Maroofian, Reza
,
Alkhawaja, Issam A
,
Khawaja, Mariam
,
Alhalasah, Hunaida
,
Houlden, Henry
,
Madden, Jill A
,
Turchetti, Valentina
,
Marafi, Dana
,
Agrawal, Pankaj B
,
Schatz, Ulrich
,
Rotenberg, Ari
,
Rotenberg, Joshua
,
Mancini, Grazia M S
,
Bakhtiari, Somayeh
,
Kruer, Michael
,
Thiffault, Isabelle
,
Hirsch, Steffen
,
Hempel, Maja
,
Stühn, Lara G
,
Haack, Tobias B
,
Posey, Jennifer E
,
Lupski, James R
,
Lee, Hyunpil
,
Sarn, Nicholas B
,
Eng, Charis
,
Gonzaga-Jauregui, Claudia
,
Zhang, Bin
,
Wang, Heng
Published in
Human molecular genetics
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Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
by
Wessel, Daan B.E.
,
Thompson, Richard J.
,
Gonzales, Emmanuel
,
Jankowska, Irena
,
Shneider, Benjamin L.
,
Sokal, Etienne
,
Grammatikopoulos, Tassos
,
Kadaristiana, Agustina
,
Jacquemin, Emmanuel
,
Spraul, Anne
,
Lipiński, Patryk
,
Czubkowski, Piotr
,
Rock, Nathalie
,
Shagrani, Mohammad
,
Broering, Dieter
,
Algoufi, Talal
,
Mazhar, Nejat
,
Nicastro, Emanuele
,
Kelly, Deirdre
,
Nebbia, Gabriella
,
Arnell, Henrik
,
Fischler, Björn
,
Hulscher, Jan B.F.
,
Serranti, Daniele
,
Arikan, Cigdem
,
Debray, Dominique
,
Lacaille, Florence
,
Goncalves, Cristina
,
Hierro, Loreto
,
Muñoz Bartolo, Gema
,
Mozer‐Glassberg, Yael
,
Azaz, Amer
,
Brecelj, Jernej
,
Dezsőfi, Antal
,
Luigi Calvo, Pier
,
Krebs‐Schmitt, Dorothee
,
Hartleif, Steffen
,
Woerd, Wendy L.
,
Wang, Jian‐She
,
Li, Li‐ting
,
Durmaz, Özlem
,
Kerkar, Nanda
,
Hørby Jørgensen, Marianne
,
Fischer, Ryan
,
Jimenez‐Rivera, Carolina
,
Alam, Seema
,
Cananzi, Mara
,
Laverdure, Noémie
,
Targa Ferreira, Cristina
,
Ordonez, Felipe
,
Wang, Heng
,
Sency, Valerie
,
Mo Kim, Kyung
,
Chen, Huey‐Ling
,
Carvalho, Elisa
,
Fabre, Alexandre
,
Quintero Bernabeu, Jesus
,
Alonso, Estella M.
,
Sokol, Ronald J.
,
Suchy, Frederick J.
,
Loomes, Kathleen M.
,
McKiernan, Patrick J.
,
Rosenthal, Philip
,
Turmelle, Yumirle
,
Rao, Girish S.
,
Horslen, Simon
,
Kamath, Binita M.
,
Rogalidou, Maria
,
Karnsakul, Wikrom W.
,
Hansen, Bettina
,
Verkade, Henkjan J.
Published in
Hepatology (Baltimore, Md.)
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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
by
Felzen, Antonia
,
van Wessel, Daan B.E.
,
Gonzales, Emmanuel
,
Thompson, Richard J.
,
Jankowska, Irena
,
Shneider, Benjamin L.
,
Sokal, Etienne
,
Grammatikopoulos, Tassos
,
Kadaristiana, Agustina
,
Jacquemin, Emmanuel
,
Spraul, Anne
,
Lipiński, Patryk
,
Czubkowski, Piotr
,
Rock, Nathalie
,
Shagrani, Mohammad
,
Broering, Dieter
,
Nicastro, Emanuele
,
Kelly, Deirdre
,
Nebbia, Gabriella
,
Arnell, Henrik
,
Fischler, Björn
,
Hulscher, Jan B.F.
,
Serranti, Daniele
,
Arikan, Cigdem
,
Polat, Esra
,
Debray, Dominique
,
Lacaille, Florence
,
Goncalves, Cristina
,
Hierro, Loreto
,
Muñoz Bartolo, Gema
,
Mozer-Glassberg, Yael
,
Azaz, Amer
,
Brecelj, Jernej
,
Dezsőfi, Antal
,
Calvo, Pier Luigi
,
Grabhorn, Enke
,
Hartleif, Steffen
,
van der Woerd, Wendy J.
,
Kamath, Binita M.
,
Wang, Jian-She
,
Li, Liting
,
Durmaz, Özlem
,
Kerkar, Nanda
,
Jørgensen, Marianne Hørby
,
Fischer, Ryan
,
Jimenez-Rivera, Carolina
,
Alam, Seema
,
Cananzi, Mara
,
Laverdure, Noemie
,
Ferreira, Cristina Targa
,
Guerrero, Felipe Ordoñez
,
Wang, Heng
,
Sency, Valerie
,
Kim, Kyung Mo
,
Chen, Huey-Ling
,
de Carvalho, Elisa
,
Fabre, Alexandre
,
Bernabeu, Jesus Quintero
,
Zellos, Aglaia
,
Alonso, Estella M.
,
Sokol, Ronald J.
,
Suchy, Frederick J.
,
Loomes, Kathleen M.
,
McKiernan, Patrick J.
,
Rosenthal, Philip
,
Turmelle, Yumirle
,
Horslen, Simon
,
Schwarz, Kathleen
,
Bezerra, Jorge A.
,
Wang, Kasper
,
Hansen, Bettina E.
,
Verkade, Henkjan J.
Published in
JHEP reports
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THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY
by
Felzen, A
,
van Wessel, D
,
Thompson, RJ
,
Gonzales, EM
,
Jankowska, I
,
Shneider, BL
,
Sokal, E
,
Grammatikopoulos, T
,
Kadaristiana, A
,
Jacquemin, E
,
Spraul, A
,
Lipinski, P
,
Czubkowski, P
,
Rock, N
,
Shagrani, M
,
Broering, D
,
Algoufi, T
,
Mazhar, N
,
Nicastro, E
,
Kelly, D
,
Nebbia, G
,
Arnell, H
,
Fischler, B
,
Hulscher, J
,
Serranti, D
,
Arikan, C
,
Polat, E
,
Debray, D
,
Lacaille, F
,
Goncalves, C
,
Hierro, L
,
Bartolo, GM
,
Mozer-Glassberg, Y
,
Azaz, A
,
Brecelj, J
,
Dezsofi, A
,
Calvo, PL
,
Grabhorn, E
,
Hartleif, S
,
Van der Woerd, W
,
Kamath, BM
,
Wang, JS
,
Li, LT
,
Durmaz, O
,
Kerkar, N
,
Jorgensen, MH
,
Fischer, RT
,
Jimenez-Rivera, C
,
Alam, S
,
Cananzi, M
,
Ruiz, M
,
Ferreira, CT
,
Ferrero, FO
,
Wang, H
,
Sency, V
,
Kim, KM
,
Chen, HL
,
Carvalho, E
,
Fabre, A
,
Bernabeu, JQ
,
Alonso, EM
,
Sokol, RJ
,
Suchy, FJ
,
Loomes, KM
,
McKiernan, PJ
,
Rosenthal, P
,
Turmelle, Y
,
Horslen, SP
,
Schwarz, KB
,
Bezerra, JA
,
Wang, KS
,
Hansen, BE
,
Verkade, HJ
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Conference Proceeding
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NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION
by
van Wessel, D
,
Thompson, RJ
,
Gonzales, EM
,
Jankowska, I
,
Shneider, BL
,
Sokal, E
,
Grammatikopoulos, T
,
Kadaristiana, A
,
Jacquemin, E
,
Spraul, A
,
Lipinski, P
,
Czubkowski, P
,
Rock, N
,
Shagrani, M
,
Broering, D
,
Algoufi, T
,
Mazhar, N
,
Nicastro, E
,
Kelly, D
,
Nebbia, G
,
Arnell, H
,
Fischler, B
,
Hulscher, J
,
Serranti, D
,
Arikan, C
,
Polat, E
,
Debray, D
,
Lacaille, F
,
Goncalves, C
,
Hierro, L
,
Bartolo, GM
,
Mozer-Glassberg, Y
,
Azaz, A
,
Brecelj, J
,
Dezsofi, A
,
Calvo, PL
,
Grabhorn, E
,
Hartleif, S
,
Van der Woerd, W
,
Wang, JS
,
Li, LT
,
Durmaz, O
,
Kerkar, N
,
Jorgensen, MH
,
Fischer, RT
,
Jimenez-Rivera, C
,
Alam, S
,
Cananzi, M
,
Laverdure, N
,
Ferreira, CT
,
Ferrero, FO
,
Wang, H
,
Sency, V
,
Kim, KM
,
Chen, HL
,
Carvalho, E
,
Fabre, A
,
Bernabeu, JQ
,
Alonso, EM
,
Sokol, RJ
,
Suchy, FJ
,
Loomes, KM
,
McKiernan, PJ
,
Rosenthal, P
,
Turmelle, YP
,
Rao, GS
,
Horslen, SP
,
Kamath, BM
,
Rogalidou, M
,
Karnsakul, W
,
Hansen, BE
,
Verkade, HJ
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Conference Proceeding
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