All individuals with variants in gene SEMA3A

22 entries on 1 page. Showing entries 1 - 22.
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Owner     
00081716 - - - M yes Turkey - - 0 - - stature, short , short stature of postnatal onset 1 1 Andreas Janecke
00081725 - PubMed: Hofmann 2013, Journal: Hofmann 2013 2-generation family, 1 affected, unaffected non-carrier mother/carrier father M no Germany - - 0 - - stature, short see paper; ..., postnatal short stature, skeletal anomalies thorax, minor congenital heart defect, camptodactyly, minor further anomalies 4 1 Johan den Dunnen
00081726 - PubMed: Young 2012, Journal: Young 2012 3-generation family, 6 affecteds (3F, 3M), sister/brother (III2), father, grandfather (and his 2 sisters) F;M - France - - 0 - - KAL see paper; ..., hypogonadism, right cryptorchidism, hyposmia, bilateral hypoplasia olfactory bulbs, ... 1 6 Johan den Dunnen
00081727 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 13 affecteds (2F, 11M) F;M - France - - 0 - - KAL - 1 13 Johan den Dunnen
00081728 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081729 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 2 affecteds (2M) M - France - - 0 - - KAL - 1 2 Johan den Dunnen
00081730 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081731 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081732 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081733 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081734 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081735 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081736 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081737 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - 1 1 Johan den Dunnen
00081738 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 772controls F;M - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00081739 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 772controls F;M - France - - 0 - - Healthy/Control - 1 13 Johan den Dunnen
00081740 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 772controls F;M - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00103740 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - M - Switzerland European 17y 0 - - SUD SUD 1 1 Cordula Haas
00104944 - - - M no Israel Jewish - 0 - - ANI - 1 3 Anna Alkelai
00104947 - - - F no Israel Jewish - 0 - - ANI - 1 1 Anna Alkelai
00104948 - - - F ? Israel Jewish - 0 - - ANI - 1 1 Anna Alkelai
00133266 VH106C - - M - Viet Nam - - 0 - - HCAD - 1 1 Xuehan Zhuang
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