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Search Results - Batzir, Nurit A.
Search Results - Batzir, Nurit A.
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Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas
by
Basel-Salmon, Lina
,
Ruhrman-Shahar, Noa
,
Orenstein, Naama
,
Levy, Michal
,
Lidzbarsky, Gabriel A.
,
Batzir, Nurit A.
,
Lifshitc-Kalis, Marina
,
Farage-Barhom, Sarit
,
Abel, Gali
,
Petasny, Mayra
,
Brabbing-Goldstein, Dana
,
Fellner, Avi
,
Bazak, Lily
Published in
Genetics in Medicine Open
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Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency...
by
Karbiener, Michael
,
Kindle, Gerhard
,
Meyts, Isabelle
,
Seppänen, Mikko R. J.
,
Candotti, Fabio
,
Kamieniak, Marta
,
Ilk, Reinhard
,
Kreil, Thomas R.
,
Seidel, Markus G.
Published in
Journal of medical virology
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Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
by
Brabbing-Goldstein, Dana
,
Bazak, Lily
,
Ruhrman-Shahar, Noa
,
Lidzbarsky, Gabriel Arie
,
Orenstein, Naama
,
Lifshiz-Kalis, Marina
,
Asia-Batzir, Nurit
,
Goldberg, Yael
,
Basel-Salmon, Lina
Published in
Prenatal diagnosis
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Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)
by
Assia Batzir, Nurit
,
Posey, Jennifer E.
,
Song, Xiaofei
,
Akdemir, Zeynep Coban
,
Rosenfeld, Jill A.
,
Brown, Chester W.
,
Chen, Emily
,
Holtrop, Shannon G.
,
Mizerik, Elizabeth
,
Nieto Moreno, Margarita
,
Payne, Katelyn
,
Raas‐Rothschild, Annick
,
Scott, Richard
,
Vernon, Hilary J.
,
Zadeh, Neda
,
Lupski, James R.
,
Sutton, V. Reid
Published in
American journal of medical genetics. Part A
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The expanding neurological phenotype of DNM1L-related disorders
by
Wangler, Michael F
,
Assia Batzir, Nurit
,
Robak, Laurie A
,
Koenig, Mary K
,
Bacino, Carlos A
,
Scaglia, Fernando
,
Bellen, Hugo J
Published in
Brain (London, England : 1878)
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
by
Yuan, Bo
,
Schulze, Katharina V
,
Assia Batzir, Nurit
,
Sinson, Jefferson
,
Dai, Hongzheng
,
Zhu, Wenmiao
,
Bocanegra, Francia
,
Fong, Chin-To
,
Holder, Jimmy
,
Nguyen, Joanne
,
Schaaf, Christian P
,
Yang, Yaping
,
Bi, Weimin
,
Eng, Christine
,
Shaw, Chad
,
Lupski, James R
,
Liu, Pengfei
Published in
Genome medicine
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A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome
by
Ruhrman‐Shahar, Noa
,
Assia Batzir, Nurit
,
Lidzbarsky, Gabriel Arie
,
Bazak, Lily
,
Magal, Nurit
,
Basel‐Salmon, Lina
Published in
American journal of medical genetics. Part A
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
by
Assia Batzir, Nurit
,
Bhagwat, Pranjali K
,
Eble, Tanya N
,
Liu, Pengfei
,
Eng, Christine M
,
Elsea, Sarah H
,
Robak, Laurie A
,
Scaglia, Fernando
,
Goldman, Alica M
,
Dhar, Shweta U
,
Wangler, Michael F
Published in
Cold Spring Harbor molecular case studies
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Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia
by
Schob, Claudia
,
Hempel, Maja
,
Safka Brozkova, Dana
,
Jiang, Huafang
,
Kim, Soo Yeon
,
Batzir, Nurit Assia
,
Orenstein, Naama
,
Bierhals, Tatjana
,
Johannsen, Jessika
,
Uhrova Meszarosova, Anna
,
Chae, Jong‐Hee
,
Seeman, Pavel
,
Woidy, Mathias
,
Fang, Fang
,
Kubisch, Christian
,
Kindler, Stefan
,
Denecke, Jonas
Published in
Annals of neurology
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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
by
Zanetti, Andrea
,
Dujardin, Gwendal
,
Fares-Taie, Lucas
,
Amiel, Jeanne
,
Roger, Jérôme E.
,
Audo, Isabelle
,
Robert, Matthieu P.
,
David, Pierre
,
Jung, Vincent
,
Goudin, Nicolas
,
Guerrera, Ida Chiara
,
Moriceau, Stéphanie
,
Amana, Danielle
,
Assia Batzir, Nurit
,
Bachar-Zipori, Anat
,
Basel Salmon, Lina
,
Boddaert, Nathalie
,
Briault, Sylvain
,
Bruel, Ange-Line
,
Costet-Fighiera, Christine
,
Coutinho Santos, Luisa
,
Gitiaux, Cyril
,
Kaminska, Karolina
,
Kuentz, Paul
,
Orenstein, Naama
,
Philip-Sarles, Nicole
,
Plutino, Morgane
,
Quinodoz, Mathieu
,
Santos, Cristina
,
Sigaudy, Sabine
,
Soeiro e Sá, Mariana
,
Sofrin, Efrat
,
Sousa, Ana Berta
,
Sousa-Luis, Rui
,
Thauvin-Robinet, Christel
,
van Dijk, Erwin L.
,
Zaafrane-Khachnaoui, Khaoula
,
Zur, Dinah
,
Kaplan, Josseline
,
Rivolta, Carlo
,
Rozet, Jean-Michel
,
Perrault, Isabelle
Published in
Nature communications
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National Rapid Genome Sequencing in Neonatal Intensive Care
by
Marom, Daphna
,
Mory, Adi
,
Reytan-Miron, Sivan
,
Amir, Yam
,
Kurolap, Alina
,
Cohen, Julia Grinshpun
,
Morhi, Yocheved
,
Smolkin, Tatiana
,
Cohen, Lior
,
Zangen, Shmuel
,
Shalata, Adel
,
Riskin, Arieh
,
Peleg, Amir
,
Lavie-Nevo, Karen
,
Mandel, Dror
,
Chervinsky, Elana
,
Fisch, Clari Felszer
,
Fleisher Sheffer, Vered
,
Falik-Zaccai, Tzipora C
,
Rips, Jonathan
,
Shlomai, Noa Ofek
,
Friedman, Smadar Eventov
,
Shporen, Calanit Hershkovich
,
Ben-Yehoshua, Sagie Josefsberg
,
Simmonds, Aryeh
,
Yaacobi, Racheli Goldfarb
,
Bauer-Rusek, Sofia
,
Omari, Hussam
,
Weiss, Karin
,
Hochwald, Ori
,
Koifman, Arie
,
Globus, Omer
,
Batzir, Nurit Assia
,
Yaron, Naveh
,
Segel, Reeval
,
Morag, Iris
,
Reish, Orit
,
Eliyahu, Aviva
,
Leibovitch, Leah
,
Schwartz, Marina Eskin
,
Abramsky, Ramy
,
Hochberg, Amit
,
Oron, Anat
,
Banne, Ehud
,
Portnov, Igor
,
Samra, Nadra Nasser
,
Singer, Amihood
,
Baris Feldman, Hagit
Published in
JAMA network open
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A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease
by
Molitor, Anne
,
Lederle, Alexandre
,
Radosavljevic, Mirjana
,
Sapuru, Vinay
,
Zavorka Thomas, Megan E
,
Yang, Jianying
,
Shirin, Mahsa
,
Collin-Bund, Virginie
,
Jerabkova-Roda, Katerina
,
Miao, Zhichao
,
Bernard, Alice
,
Rolli, Véronique
,
Grenot, Pierre
,
Castro, Carla Noemi
,
Rosenzwajg, Michelle
,
Lewis, Elyssa G
,
Person, Richard
,
Esperón-Moldes, Uxía-Saraiva
,
Kaare, Milja
,
Nokelainen, Pekka T
,
Batzir, Nurit Assia
,
Hoffer, Gal Zaks
,
Paul, Nicodème
,
Stemmelen, Tristan
,
Naegely, Lydie
,
Hanauer, Antoine
,
Bibi-Triki, Sabrina
,
Grün, Sarah
,
Jung, Sophie
,
Busnelli, Ignacio
,
Tripolszki, Kornelia
,
Al-Ali, Ruslan
,
Ordonez, Natalia
,
Bauer, Peter
,
Song, Eunkyung
,
Zajo, Kristin
,
Partida-Sanchez, Santiago
,
Robledo-Avila, Frank
,
Kumanovics, Attila
,
Louzoun, Yoram
,
Hirschler, Aurélie
,
Pichot, Angélique
,
Toker, Ori
,
Mejía, Cesar Andrés Muñoz
,
Parvaneh, Nima
,
Knapp, Esther
,
Hersh, Joseph H
,
Kenney, Heather
,
Delmonte, Ottavia M
,
Notarangelo, Luigi D
,
Goetz, Jacky G
,
Kahwash, Samir B
,
Carapito, Christine
,
Bajwa, Rajinder P S
,
Thomas, Caroline
,
Ehl, Stephan
,
Isidor, Bertrand
,
Carapito, Raphael
,
Abraham, Roshini S
,
Hite, Richard K
,
Marcus, Nufar
,
Bertoli-Avella, Aida
,
Bahram, Seiamak
Published in
Science advances
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