Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort von Nissenkorn, Andreea, Levy-Shraga, Yael, Banet-Levi, Yonit, Lahad, Avishay, Sarouk, Ifat, Modan-Moses, Dalit

Volltext

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia von Krauthammer, Alexander, Lahad, Avishay, Goldberg, Lior, Sarouk, Ifat, Weiss, Batia, Somech, Raz, Soudack, Michalle, Pessach, Itai M

Volltext

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction during pregnancy von Ben-Zeev, Zohar Steinberg, Peniakov, Marina, Felszer, Clari, Weiner, Scott A, Lahad, Avishay, Almashanu, Shlomo, Tenenbaum Rakover, Yardena

Volltext

Current therapy of pediatric Crohn’s disease von Lahad, Avishay, Weiss, Batia

Volltext

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects von Simon, Amos J, Lev, Atar, Zhang, Yong, Weiss, Batia, Rylova, Anna, Eyal, Eran, Kol, Nitzan, Barel, Ortal, Cesarkas, Keren, Soudack, Michalle, Greenberg-Kushnir, Noa, Rhodes, Michele, Wiest, David L, Schiby, Ginette, Barshack, Iris, Katz, Shulamit, Pras, Elon, Poran, Hana, Reznik-Wolf, Haike, Ribakovsky, Elena, Simon, Carlos, Hazou, Wadi, Sidi, Yechezkel, Lahad, Avishay, Katzir, Hagar, Sagie, Shira, Aqeilan, Haifa A, Glousker, Galina, Amariglio, Ninette, Tzfati, Yehuda, Selig, Sara, Rechavi, Gideon, Somech, Raz

Volltext

Association Between Infliximab Drug and Antibody Levels and Therapy Outcome in Pediatric Inflammatory Bowel Diseases von Ungar, Bella, Glidai, Yoav, Yavzori, Miri, Picard, Orit, Fudim, Ella, Lahad, Avishay, Haberman, Yael, Shouval, Dror S., Weintraub, Ilana, Eliakim, Rami, Ben‐Horin, Shomron, Weiss, Batia

Volltext

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report von Weiss, Batia, Krauthammer, Alexander, Soudack, Michalle, Lahad, Avishay, Sarouk, Ifat, Somech, Raz, Heimer, Gali, Ben-Zeev, Bruria, Nissenkorn, Andreea

Volltext

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia von Krauthammer, Alexander, Lahad, Avishay, Sarouk, Yifat, Somech, Raz, Nissenkorn, Andreea, Modan-Moses, Dalit, Levi-Kidron, Hila, Sadeh-Kon, Tal, Weiss, Batia

Volltext

Rapid Infliximab Infusion in Children von Lev‐Tzion, Raffi, Assa, Amit, Yerushalmi, Baruch, Lahad, Avishay, Friedman, Mira, Ledder, Oren, Turner, Dan

Volltext

Impaired IL‐10 Receptor‐mediated Suppression in Monocyte From Patients With Crohn Disease von Nunberg, Moran Y., Werner, Lael, Kopylov, Uri, Haberman, Yael, Lahad, Avishay, Weiss, Batia, Shouval, Dror S.

Volltext

Longitudinal changes in bone mineral density in children with inflammatory bowel diseases von Levy‐Shraga, Yael, Shenkar, Anatoly, Modan‐Moses, Dalit, Assa, Amit, Haberman, Yael, Shouval, Dror, Guz‐Mark, Anat, Lahad, Avishay, Weiss, Batia

Volltext

Rapid Infliximab Infusion in Children: A Multicenter Retrospective Cohort Study von Lev-Tzion, Raffi, Assa, Amit, Yerushalmi, Baruch, Lahad, Avishay, Friedman, Mira, Ledder, Oren, Turner, Dan

Volltext

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations von Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair

Volltext

Resting Energy Expenditure in Patients With Familial Dysautonomia von Bar Aluma, Bat‐El, Norcliffe‐Kaufmann, Lucy, Sarouk, Ifat, Dagan, Adi, Ashkenazi, Moshe, Bezalel, Yael, Vilozni, Daphna, Lahad, Avishay, Efrati, Ori

Volltext

Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study von Aluma, Bat-El Bar, Norcliffe-Kaufmann, Lucy, Sarouk, Ifat, Dagan, Adi, Ashkenazi, Moshe, Bezalel, Yael, Vilozni, Daphna, Lahad, Avishay, Efrati, Ori

Volltext

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction in pregnancy von Ben-Zeev, Zohar Steinberg, Peniakov, Marina, Felszer, Clari, Weiner, Scott A, Lahad, Avishay, Almashanu, Shlomo, Tenenbaum-Rakover, Yardena

Volltext

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation von Pode-Shakked, Ben, Heimer, Gali, Vilboux, Thierry, Marek-Yagel, Dina, Ben-Zeev, Bruria, Davids, Mariska, Ferreira, Carlos R., Philosoph, Amit Mary, Veber, Alvit, Pode-Shakked, Naomi, Kenet, Gili, Soudack, Michalle, Hoffmann, Chen, Vernitsky, Helly, Safaniev, Marina, Lodzki, Maya, Lahad, Avishay, Shouval, Dror S., Levinkopf, Dana, Weiss, Batia, Barg, Assaf Arie, Daka, Ayman, Amariglio, Ninette, Malicdan, May Christine V., Gahl, William A., Anikster, Yair

Volltext

Relationships between Clinical Presentation, Serology, Histology, and Duodenal Deposits of Tissue Transglutaminase Antibodies in Pediatric Celiac Disease von Loberman-Nachum, Nurit, Schvimer, Michael, Avivi, Camila, Barshack, Iris, Lahad, Avishay, Fradkin, Akiva, Bujanover, Yoram, Weiss, Batia

Volltext

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome von Vardi, Iddo, Barel, Ortal, Sperber, Michal, Schvimer, Michael, Nunberg, Moran, Field, Michael, Ouahed, Jodie, Marek-Yagel, Dina, Werner, Lael, Haberman, Yael, Lahad, Avishay, Anikster, Yair, Rechavi, Gideon, Barshack, Iris, McElwee, Joshua J., Maranville, Joseph, Somech, Raz, Snapper, Scott B., Weiss, Batia, Shouval, Dror S.

Volltext

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution? von Steg Saban, Or, Pode-Shakked, Ben, Abu-Libdeh, Bassam, Granot, Maya, Barkai, Galia, Haberman, Yael, Roterman, Inon, Lahad, Avishay, Shouval, Dror S., Weiss, Batia, Marek-Yagel, Dina, Barel, Ortal, Loberman-Nachum, Nurit, Abraham, Smadar, Somech, Raz, Weinstein, David A., Anikster, Yair

Volltext